Professor Dame Pamela J Shaw

DBE, MBBS, MD, FRCP, FMedSci, FAAN, FANA, FAAAS

Neuroscience, School of Medicine and Population Health

Director of the Sheffield Institute for Translational Neuroscience (SITraN)

Professor of Neurology

Director, NIHR Biomedical Research Centre Translational Neuroscience for Chronic Neurological Disorders

Director, Sheffield Care and Research Centre for Motor Neuron Disorders

Director, Cross-Faculty Flagship Neuroscience Institute

Honorary Consultant Neurologist, Sheffield Teaching Hospitals NHS Foundation Trust

pamela.shaw@sheffield.ac.uk
+44 114 222 2295

+44 114 226 1049 (Medical NHS Secretary: Helen Rains)

+44 114 222 2295 (Academic Administrator: Gillian Griffiths)

Sheffield Institute for Translational Neuroscience (SITraN)

Full contact details

Professor Dame Pamela J Shaw
Neuroscience, School of Medicine and Population Health
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ

Profile

Pamela Shaw is an academic neurologist and a world-leading researcher in motor neuron disease (MND). She has held extensive leadership roles at local/national/international levels including: Director-Sheffield Institute for Translational Neuroscience (SITraN) (2010-present); Director University of Sheffield Cross-Faculty Neuroscience Institute (2019-present); Pro-Vice Chancellor Faculty of Health (2016-2019). NIHR leadership roles include DeNDRoN Associate Director (2006-15);Yorkshire&Humber CRN Division 4 Lead (2014-16);Director-Sheffield NIHR BRC (2017-present). Nationally she led the Association of British Neurologists (ABN) Clinical Research Academic Committee and served as panel member for MRC, Wellcome, Academy Medical Sciences, UKRI, Lister Institute, NIHR Senior Investigator awards. Internationally she is a founding/executive member of ENCALS and chaired the International Scientific Programme Committee for ALS/MND (2004-10).

She has systematically built scientific and clinical facilities and diverse, multidisciplinary teams to deliver effective translational research for neurodegeneration. She uses genetics and biological studies in pre-clinical model systems linked to human biosamples, to define novel pathways of disease, and to identify promising small molecule and gene-therapy targets, together with novel biomarkers.

Significant contributions from MND clinical research include: identification and introduction into clinical practice of riluzole; evaluation of further potential neuroprotective therapies in >22 clinical trials; demonstration that support with non-invasive ventilation (NIV) has a major positive impact on QOL and survival which changed management internationally. She has contributed significantly to the genetic subclassification of MND including identification of changes in CHMP2B;TARDB;FUS;C9ORF72;TUBA4A;NEK1;Annexin A11;GLT8D1 genes, together with the associated clinical phenotype and molecular pathology. She has also demonstrated the value of offering routine genetic screening for MND patients.

Her team has generated a translational pipeline of potential neuroprotective therapies. Using viral vectors (AAV9) to deliver neuroprotective cargoes to the CNS, she has demonstrated dramatic therapeutic effects in pre-clinical models of SOD1-MND and SMA. This work has underpinned successful experimental medicine trials. Transcriptomic work has identified several pathways which can be modified therapeutically including the NRF2-anti-oxidant response and SRSF1, which are currently being developed towards MND clinical trials.

She has authored >560 publications (H-index 116, Citations 48,225) and secured >£140m in research funding. She has supervised and mentored the career development of >190 young scientists and clinicians, including 55 PhD students. She has delivered >600 presentations at national/international venues including many plenary/keynote invited lectures.

Multiple awards recognising her translational research contributions include: NIHR Senior Investigator Award-2013-2021; DBE for Services to Neuroscience-2014; American Academy of Neurology Sheila Essey Award-2001;International ALS/MND Alliance Forbes Norris Award-2007;Royal College of Physicians Jean Hunter Award-2006/Croonian Lecture-2016; FMedSci-2007; Fellowship American Association for the Advancement of Science-2015;ABN Medallist-2019; Queen’s Anniversary Award to SITraN-2019; Singhal Award Lecture World Congress of Neurology 2021; Platinum Clinical Excellence Award-2013-present; British Neuroscience Research Excellence award 2022.

She has supported academic capacity development locally, building a department of >300 staff and graduate students since 2000 and nationally through DeNDroN and the ABN. She has mentored future research leaders through the NIHR Academy and the Academy of Medical Sciences. As Pro-VC she led the Medical School Athena Swan Silver award and promoted the Faculty Equality-Diversity-Inclusion agenda appointing a Faculty EDI Director and introducing mandatory EDI staff training.

Professor Shaw graduated in Medicine with 1st Class Honours from the University of Newcastle in 1979. She undertook her MRCP and Specialist Training in Neurology in Newcastle.

In 1988 she was awarded an MD with commendation for her work on the neurological complications of coronary bypass surgery. After an intermediate fellowship award from the Wellcome Trust, she was awarded a Wellcome Senior Fellowship in Clinical Science which she held from 1991 -2001.

In 1997 she was appointed Professor of Neurological Medicine at the University of Newcastle and in 2000 was appointed as Professor of Neurology at the University of Sheffield.

As an undergraduate in Newcastle she was awarded the Stephen Scott; Gibb; Mary Gordon; Mona McNaughton and Phillipson Prizes/Scholarships and achieved distinction in all undergraduate examinations.

Research interests

Professor Shaw is a Clinician Scientist in Neurology, an emeritus NIHR Senior Investigator and formerly a Wellcome Senior Clinical Fellow. Supported by long-term programme funding from the Wellcome Trust, she has since 1991 led a major multidisciplinary programme of research investigating genetic, molecular and neurochemical factors underlying neurodegenerative disorders of the human motor system.

Her team use robust cellular and in vivo models of neurodegeneration and correlate key findings with disease related changes in the human nervous system. Significant research achievements include:

Identification of cell specific features of motor neurons which underlie susceptibility to neurodegeneration.
Understanding the cellular pathways of motor neuron injury in the presence of mutant SOD1 using a combination of cell biology, proteomics and gene expression profiling.
Subclassification of motor neuron disease (MND) based on genetics and molecular pathology.
Development of new small molecule and gene therapy candidate treatments for patients using staged screening programmes in cellular and other experimental model systems linked to human biosamples.
Promoting the introduction of neuroprotective treatments for MND into trials and clinical practice e.g. riluzole, tofersen, aldesleukin.
Establishing the role of non-invasive ventilation (NIV) in improving the quality of life and prolonging survival of MND patients.

Professor Shaw’s research is currently funded by the Medical Research Council, NIHR, LifeArc, the Motor Neurone Disease Association, the My Name’5 Doddie Foundation, Fight MND, the US Department of Defence, the European Union and biotechnology & pharmaceutical industry partners.

Current projects

Professor Shaw’s research is focused on 3 main goals:

To understand the function of motor neurons in health and disease and to translate basic science findings into health benefits for patients with degenerative motor system disorders.
To provide excellent clinical care for patients with motor system disorders, at all disease stages incorporating: multidisciplinary team working, evidence based standards of care for symptomatic management, and evaluation of new neuroprotective therapies.
To foster excellent training for clinical and scientific junior staff with the aim of ensuring high standards of future care and linking new developments in medical science firmly to the needs of patients with neurological disorders.

Since 1983 she has supervised the research training of > 190 individuals from medicine and science including 55 PhD/MD students.

Professor Shaw is the Director of the NIHR Sheffield Biomedical Research Centre translating new potential treatments from SITraN research into early phase and experimental medicine clinical trials http://sheffieldbrc.nihr.ac.uk/.

Publications

Journal articles

Webster CP, Hall B, Crossley OM, Dauletalina D, King M, Lin Y-H, Castelli LM, Yang Z-L, Coldicott I, Kyrgiou-Balli E , Higginbottom A et al (2025) RuvBL1/2 reduce toxic dipeptide repeat protein burden in multiple models of C9orf72-ALS/FTD. Life Science Alliance, 8(2), e202402757-e202402757.
Rawlinson C, Gould RL, McDermott CJ, Thompson B, Weeks K, Gossage-Worrall R, Serfaty MA, Graham CD, McCracken L, White D , Howard RJ et al (2024) Experiences of acceptance and commitment therapy for people living with motor neuron disease (MND): a qualitative study from the perspective of people living with MND and therapists. The Cognitive Behaviour Therapist, 17.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR , Jones A et al (2024) Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. Cell Genomics, 100679-100679.
Burrows DJ, McGown A, Abduljabbar O, Castelli LM, Shaw PJ, Hautbergue GM & Ramesh TM (2024) RAN translation of C9orf72-related dipeptide repeat proteins in zebrafish recapitulates hallmarks of amyotrophic lateral sclerosis and identifies hypothermia as a therapeutic strategy. Annals of Neurology. View this article in WRRO
van den Berg LH, Rothstein JD, Shaw PJ, Babu S, Benatar M, Bucelli RC, Genge A, Glass JD, Hardiman O, Libri V , Mobach T et al (2024) Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study. The Lancet Neurology.
Vrellaku B, Hassan IS, Howitt R, Webster CP, Harriss E, McBlane F, Betts C, Schettini J, Lion M, Mindur JE , Duerr M et al (2024) A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders. Molecular Therapy.
Shaw PJ & Cooper-Knock J (2024) Physical Activity as a Risk Factor for Amyotrophic Lateral Sclerosis. Neurology, 103(2).
Au WH, Miller-Fleming L, Sanchez-Martinez A, Lee JAK, Twyning MJ, Prag HA, Raik L, Allen SP, Shaw PJ, Ferraiuolo L , Mortiboys H et al (2024) Activation of the Keap1/Nrf2 pathway suppresses mitochondrial dysfunction, oxidative stress, and motor phenotypes inC9orf72ALS/FTD models. Life Science Alliance, 7(9), e202402853-e202402853.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper‐Knock J, Corcia P, Couratier P, de Carvalho M, Drory V , Gotkine M et al (2024) Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS. Annals of Clinical and Translational Neurology. View this article in WRRO
Taş G, Westerdijk T, Postma E, van Rheenen W, Bakker MK, van Eijk KR, Kooyman M, Al Khleifat A, Iacoangeli A, Ticozzi N , Cooper-Knock J et al (2024) Computing linkage disequilibrium aware genome embeddings using autoencoders. Bioinformatics, 40(6).
Alarcan H, Bruno C, Emond P, Raoul C, Vourc'h P, Corcia P, Camu W, Veyrune J, Garlanda C, Locati M , Juntas‐Morales R et al (2024) Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis. Annals of the New York Academy of Sciences. View this article in WRRO
Gould RL, McDermott CJ, Thompson BJ, Rawlinson CV, Bursnall M, Bradburn M, Kumar P, Turton EJ, White DA, Serfaty MA , Graham CD et al (2024) Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK. The Lancet. View this article in WRRO
Aragón-González A, Shaw AC, Kok JR, Roussel FS, Santos Souza CD, Granger SM, Vetter T, de Diego Y, Meyer KC, Beal SN , Shaw PJ et al (2024) C9ORF72 patient-derived endothelial cells drive blood-brain barrier disruption and contribute to neurotoxicity. Fluids and Barriers of the CNS, 21(1). View this article in WRRO
Conwill MT, Alix JJP & Shaw PJ (2024) Hyperexcitability of the asymptomatic motor cortex in a case of Mills' syndrome. Muscle & Nerve, 69(6), 733-734.
Alix JJP, Plesia M, Dudgeon AP, Kendall CA, Hewamadduma C, Hadjivassiliou M, Gorman GS, Taylor RW, McDermott CJ, Shaw PJ , Mead RJ et al (2024) Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology. The Analyst. View this article in WRRO
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K , Julian TH et al (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10(3), e24975-e24975.
Evans LJ, O’Brien D & Shaw PJ (2024) Current neuroprotective therapies and future prospects for motor neuron disease.
Bell SM, Wareing H, Hamshaw A, De S, New E, Shaw P, De Marco M, Venneri A, Blackburn DJ, Ferraiuolo L & Mortiboys H (2023) Deficits in mitochondrial function and glucose metabolism seen in sporadic and familial Alzheimer’s disease derived Astrocytes are ameliorated by increasing hexokinase 1. Alzheimer's & Dementia, 19(S13).
Lombardo FL, Spila Alegiani S, Mayer F, Cipriani M, Lo Giudice M, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH , Hardiman O et al (2023) A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial. Trials, 24(1). View this article in WRRO
Richardson PJ, Smith DP, de Giorgio A, Snetkov X, Almond-Thynne J, Cronin S, Mead RJ, McDermott CJ & Shaw PJ (2023) Janus kinase inhibitors are potential therapeutics for amyotrophic lateral sclerosis. Translational Neurodegeneration, 12(1). View this article in WRRO
Gould RL, Rawlinson C, Thompson B, Weeks K, Gossage-Worrall R, Cantrill H, Serfaty MA, Graham CD, McCracken LM, White D , Howard RJ et al (2023) Acceptance and commitment therapy for people living with motor neuron disease: an uncontrolled feasibility study. Pilot and Feasibility Studies, 9.
Chen Z, Reynolds RH, Pardiñas AF, Gagliano Taliun SA, van Rheenen W, Lin K, Shatunov A, Gustavsson EK, Fogh I, Jones AR , Robberecht W et al (2023) The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases. Neurobiology of Disease, 180, 106082-106082.
Adey BN, Cooper-Knock J, Al Khleifat A, Fogh I, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M , Drory V et al (2023) Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17.
Castelli LM, Lin Y-H, Sanchez-Martinez A, Gül A, Mohd Imran K, Higginbottom A, Upadhyay SK, Márkus NM, Rua Martins R, Cooper-Knock J , Montmasson C et al (2023) A cell-penetrant peptide blocking C9ORF72 -repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. Science Translational Medicine, 15(685).
Gandhi R, Selvarajah D, Sloan G, Greig M, Wilkinson ID, Shaw PJ, Griffiths P & Tesfaye S (2023) Preservation of thalamic neuronal function may be a prerequisite for pain perception in diabetic neuropathy: a magnetic resonance spectroscopy study. Frontiers in Pain Research, 3.
Yildiz O, Schroth J, Tree T, Turner MR, Shaw PJ, Henson SM & Malaspina A (2023) Senescent-like Blood Lymphocytes and Disease Progression in Amyotrophic Lateral Sclerosis. Neurology - Neuroimmunology Neuroinflammation, 10(1), e200042-e200042.
Moll T, Odon V, Harvey C, Collins MO, Peden A, Franklin J, Graves E, Marshall JNG, dos Santos Souza C, Zhang S , Castelli L et al (2023) Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. Life Science Alliance, 6(1), e202201449-e202201449.
Bauer CS, Webster CP, Shaw AC, Kok JR, Castelli LM, Lin Y-H, Smith EF, Illanes-Álvarez F, Higginbottom A, Shaw PJ , Azzouz M et al (2022) Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation. Frontiers in Cellular Neuroscience, 16.
Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S , van Rheenen W et al (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16.
Aragón-González A, Shaw PJ & Ferraiuolo L (2022) Blood–brain barrier disruption and its involvement in neurodevelopmental and neurodegenerative disorders. International Journal of Molecular Sciences, 23(23).
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N , Spargo TP et al (2022) The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nature Communications, 13(1).
Mehta PR, Iacoangeli A, Opie-Martin S, van Vugt JJFA, Al Khleifat A, Bredin A, Ossher L, Andersen PM, Hardiman O, Mehta AR , Fratta P et al (2022) The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. Brain, 145(12), 4440-4447.
Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD , Andrews JA et al (2022) Trial of antisense oligonucleotide tofersen for SOD1 ALS. New England Journal of Medicine, 387(12), 1099-1110.
Feldman EL, Goutman SA, Petri S, Mazzini L, Savelieff MG, Shaw PJ & Sobue G (2022) Amyotrophic lateral sclerosis. The Lancet.
Sassani M, Alix J, Baster K, Cercignani M, Shaw P & Jenkins T (2022) 176 Motor fatigability in motor neuron disease. Journal of Neurology, Neurosurgery & Psychiatry, 93(9), e2.136-e2.136.
Chapman L, Shepheard S, Verber N, Turner M, Malaspina A, Rogers M-L & Shaw P (2022) 171 Urinary P75: a novel biomarker for motor neuron disease?. Journal of Neurology, Neurosurgery & Psychiatry, 93(9), e2.130-e2.130.
Shaw P, Miller T, Cudkowicz M, Genge A, Sobue G, Nestorov I, Graham D-I, Fanning L, Fradette S & McNeill M (2022) Tofersen in adults with SOD1-ALS: phase 3 VALOR trial and open-label extension results. Journal of Neurology, Neurosurgery & Psychiatry, 93(9), e2.208-e2.208.
Dennys C, Baggio C, Rodrigo R, Roussel F, Kulinich A, Heintzman S, Fox A, Kolb SJ, Shaw PJ, Ethell IM , Pellecchia M et al (2022) EphA4 targeting agents protect motor neurons from cell death induced by ALS-astrocytes. iScience, 104877-104877.
Cooper‐Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T , Shelkovnikova T et al (2022) Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology. View this article in WRRO
Alix JJP, Plesia M, Hool SA, Coldicott I, Kendall CA, Shaw PJ, Mead RJ & Day JC (2022) Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle. Muscle and Nerve. View this article in WRRO
Franklin J, Cooper-Knock J, Baheerathan A, Moll T, Heverin M, Hardiman O, Mannikko R, Shaw P & Hanna M (2022) Concurrent sodium channel myotonia and amyotrophic lateral sclerosis supports shared pathogenesis. Journal of Neurology, Neurosurgery & Psychiatry, 93(6), A13.2-A13.
Price K, Mellor J, Mcnamara M, Hewamadduma C, Shaw P, Derott CM & Hadjivassiliou M (2022) Large single-centre cohort of HSP patients in UK: advantages of deep pheno- typing and longitudinal follow-up. Journal of Neurology, Neurosurgery & Psychiatry, 93(6), A10.1-A10.
Schooling CN, Healey TJ, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP (2022) Tensor electrical impedance myography identifies bulbardisease progression in amyotrophic lateral sclerosis. Clinical Neurophysiology, 139, 69-75. View this article in WRRO
Alix J, Plesia M, Lloyd GR, Dudgeon A, Kendall CA, Hewamadduma C, Hadjivassiliou M, McDermott C, Gorman G, Taylor R , Shaw PJ et al (2022) Rapid identification of human muscle disease with fibre optic Raman spectroscopy. Analyst. View this article in WRRO
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang Z-L, Higginbottom A, Khundadze M , Shaw PJ et al (2022) SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics. View this article in WRRO
Gomes C, Sequeira C, Likhite S, Dennys CN, Kolb SJ, Shaw PJ, Vaz AR, Kaspar BK, Meyer K & Brites D (2022) Neurotoxic astrocytes directly converted from sporadic and familial ALS patient fibroblasts reveal signature diversities and miR-146a theragnostic potential in specific subtypes. Cells, 11(7). View this article in WRRO
Eitan C, Siany A, Barkan E, Olender T, van Eijk KR, Moisse M, Farhan SMK, Danino YM, Yanowski E, Marmor-Kollet H , Rivkin N et al (2022) Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS. Nature Neuroscience, 25(4), 433-445.
Boddy S, Islam M, Moll T, Kurz J, Burrows D, McGown A, Bhargava A, Julian TH, Harvey C, Marshall JNG , Hall BPC et al (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4(2). View this article in WRRO
Hop PJ, Zwamborn RAJ, Hannon E, Shireby GL, Nabais MF, Walker EM, van Rheenen W, van Vugt JJFA, Dekker AM, Westeneng H-J , Tazelaar GHP et al (2022) Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14(633).
Thompson AG, Gray E, Verber N, Bobeva Y, Lombardi V, Shepheard SR, Yildiz O, Feneberg E, Farrimond L, Dharmadasa T , Gray P et al (2022) Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain. Brain Communications, 4(1). View this article in WRRO
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra H-J, Bakker OB, Deelen P , Shireby G et al (2022) Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 54(3), 361-361.
Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S , Byrne R et al (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7(1). View this article in WRRO
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Moll T, Marshall JNG, Harvey C, Nezhad HG, Franklin J, Souza CDS , Ning K et al (2022) Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron. View this article in WRRO
Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ , Agopian AJ et al (2022) Common genetic variants contribute to risk of transposition of the great arteries. Circulation Research, 130(2), 166-180. View this article in WRRO
Julian TH, Boddy S, Islam M, Kurz J, Whittaker KJ, Moll T, Harvey C, Zhang S, Snyder MP, McDermott C , Cooper-Knock J et al (2022) A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain, 145(3), 832-842. View this article in WRRO
Alix JJP, Plesia M, Lloyd GR, Dudgeon AP, Kendall CA, McDermott CJ, Gorman GS, Taylor RW, Shaw PJ & Day JC (2022) The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease : a preliminary comparison between fibre optic probe and microscope formats. Journal of Raman Spectroscopy, 53(2), 172-181. View this article in WRRO
Chan Y, Alix JJP, Neuwirth C, Barkhaus PE, Castro Tech J, Jenkins TM, McDermott CJ, Shaw PJ, Carvalho M, Nandedkar S , Stålberg E et al (2022) Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis but not all muscles reinnervate. Muscle & Nerve, 65(2), 203-210. View this article in WRRO
Anton A, Mead RJ, Shaw PJ, Edden RAE, Bigley J, Jenkins TM, Wild JM, Hoggard N & Wilkinson ID (2022) Assessment of the precision in measuring glutathione at 3 T with a MEGA-PRESS sequence in primary motor cortex and occipital cortex. Journal of Magnetic Resonance Imaging, 55(2), 435-442. View this article in WRRO
Benson BC, Shaw PJ, Azzouz M, Highley JR & Hautbergue GM (2021) Proteinopathies as hallmarks of impaired gene expression, proteostasis and mitochondrial function in amyotrophic lateral sclerosis. Frontiers in Neuroscience, 15. View this article in WRRO
Moll T, Marshall JNG, Soni N, Zhang S, Cooper-Knock J & Shaw PJ (2021) Membrane lipid raft homeostasis is directly linked to neurodegeneration. Essays in Biochemistry, 65(7), 999-1011. View this article in WRRO
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra H-J, Bakker OB, Deelen P , Shireby G et al (2021) Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53(12), 1636-1648. View this article in WRRO
Schooling CN, Healey TJ, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP (2021) Tensor electrical impedance myography identifies clinically relevant features in amyotrophic lateral sclerosis. Physiological Measurement, 42(10). View this article in WRRO
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR , Cookson MR et al (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurology, 78(10), 1236-1248. View this article in WRRO
Shaw P (2021) New therapies for MND. Journal of the Neurological Sciences, 429, 117636-117636.
Sassani M, Alix J, Mcdermott C, Baster K, Hoggard N, Wild J, Mortiboys H, Shaw P, Wilkinson I & Jenkins T (2021) Brain energy metabolism in ALS: A phosphorus-31 magnetic resonance spectroscopy study. Journal of the Neurological Sciences, 429, 119412-119412. View this article in WRRO
van Eijk RPA, Nikolakopoulos S, Roes KCB, Kendall L, Han SS, Lavrov A, Epstein N, Kliest T, de Jongh AD, Westeneng H-J , Al-Chalabi A et al (2021) Innovating clinical trials for amyotrophic lateral sclerosis : challenging the established order. Neurology, 97(11), 528-536. View this article in WRRO
Gerou M, Hall B, Woof R, Allsop J, Kolb SJ, Meyer K, Shaw PJ & Allen SP (2021) Amyotrophic lateral sclerosis alters the metabolic aging profile in patient derived fibroblasts. Neurobiology of Aging, 105, 64-77. View this article in WRRO
Jiménez-Villegas J, Ferraiuolo L, Mead RJ, Shaw PJ, Cuadrado A & Rojo AI (2021) NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS. Free Radical Biology and Medicine, 173, 125-141. View this article in WRRO
Watkins JA, Alix JJP, Shaw PJ & Mead RJ (2021) Extensive phenotypic characterisation of a human TDP-43^Q331K transgenic mouse model of amyotrophic lateral sclerosis (ALS). Scientific Reports, 11(1). View this article in WRRO
Giovannelli I, Bayatti N, Brown A, Wang D, Mickunas M, Camu W, Veyrune J-L, Payan C, Garlanda C, Locati M , Juntas-Morales R et al (2021) Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2. Brain Communications, 3(3). View this article in WRRO
Castelli LM, Cutillo L, Souza CDS, Sanchez-Martinez A, Granata I, Lin Y-H, Myszczynska MA, Heath PR, Livesey MR, Ning K , Azzouz M et al (2021) SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export : genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 16(1). View this article in WRRO
Dajti I, Valenzuela JI, Boccalatte LA, Gemelli NA, Smith DE, Dudi-Venkata NN, Kroon HM, Sammour T, Roberts M, Mitchell D , Lah K et al (2021) Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2 : the COVIDSurg mortality score. British Journal of Surgery, 108(11), 1274-1292. View this article in WRRO
Ciervo Y, Gatto N, Allen C, Grierson A, Ferraiuolo L, Mead RJ & Shaw PJ (2021) Adipose-derived stem cells protect motor neurons and reduce glial activation in both in vitro and in vivo models of ALS. Molecular Therapy — Methods & Clinical Development, 21, 413-433. View this article in WRRO
Pham TK, Buczek WA, Mead RJ, Shaw PJ & Collins MO (2021) Proteomic approaches to study cysteine oxidation: applications in neurodegenerative diseases. Frontiers in Molecular Neuroscience, 14. View this article in WRRO
Julian TH, Glascow N, Barry ADF, Moll T, Harvey C, Klimentidis YC, Newell M, Zhang S, Snyder MP, Cooper-Knock J & Shaw PJ (2021) Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes. EBioMedicine, 68. View this article in WRRO
Plesia M, Stevens OA, Lloyd GR, Kendall CA, Coldicott I, Kennerley AJ, Miller G, Shaw PJ, Mead RJ, Day JCC & Alix JJP (2021) In vivo fiber optic raman spectroscopy of muscle in preclinical models of amyotrophic lateral sclerosis and Duchenne muscular dystrophy. ACS Chemical Neuroscience, 12(10), 1768-1776. View this article in WRRO
Nabais MF, Laws SM, Lin T, Vallerga CL, Armstrong NJ, Blair IP, Kwok JB, Mather KA, Mellick GD, Sachdev PS , Wallace L et al (2021) Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22. View this article in WRRO
Shepheard SR, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, Beauchamp N, Place E, Sollars ESA, Turner MR , Malaspina A et al (2021) Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 92(5), 510-518. View this article in WRRO
Appleby‐Mallinder C, Schaber E, Kirby J, Shaw PJ, Cooper‐Knock J, Heath PR & Highley JR (2021) TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology, 47(1), 61-72. View this article in WRRO
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C , Hornstein E et al (2021) Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. Cell Reports, 34(5), 108730-108730.
Boddy SL, Giovannelli I, Sassani M, Cooper-Knock J, Snyder MP, Segal E, Elinav E, Barker LA, Shaw PJ & McDermott CJ (2021) The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Medicine, 19(1). View this article in WRRO
Gatto N, Dos Santos Souza C, Shaw AC, Bell SM, Myszczynska MA, Powers S, Meyer K, Castelli LM, Karyka E, Mortiboys H , Azzouz M et al (2021) Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease. Aging Cell, 20(1). View this article in WRRO
Moisse M, Zwamborn RAJ, Vugt J, Spek R, Rheenen W, Kenna B, Van Eijk K, Kenna K, Corcia P, Couratier P , Vourc'h P et al (2021) The effect of SMN gene dosage on ALS risk and disease severity. Annals of Neurology, 89(4), 686-697. View this article in WRRO
Sassani M, Alix J, McDermott C, Baster K, Hoggard N, Wild J, Mortiboys H, Shaw P, Wilkinson I & Jenkins T (2021) Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis. Brain, 143(12), 3603-3618. View this article in WRRO
Bell SM, Barnes K, De Marco M, Shaw PJ, Ferraiuolo L, Blackburn DJ, Venneri A & Mortiboys H (2021) Mitochondrial dysfunction in Alzheimer’s disease : a biomarker of the future?. Biomedicines, 9(1). View this article in WRRO
Bury JJ, Chambers A, Heath PR, Ince PG, Shaw PJ, Matthews FE, Brayne C, Simpson JE & Wharton SB (2021) Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain. Acta Neuropathologica Communications, 9(1). View this article in WRRO
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A , Ibáñez K et al (2021) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron, 109(3), 448-460.e4.
Hop PJ, Zwamborn RAJ, Hannon EJ, Dekker AM, van Eijk KR, Walker EM, Iacoangeli A, Jones AR, Shatunov A, Khleifat AA , Opie-Martin S et al (2020) Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies. NAR Genomics and Bioinformatics, 2(4). View this article in WRRO
Ghahremani Nezhad H, Franklin JP, Alix JJP, Moll T, Pattrick M, Cooper-Knock J, Shanmugarajah P, Beauchamp NJ, Hadjivissiliou M, Paling D , Mcdermott C et al (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(7-8), 579-582. View this article in WRRO
Schooling CN, Jamie Healey T, McDonough HE, French SJ, McDermott CJ, Shaw PJ, Kadirkamanathan V & Alix JJP (2020) Modelling and analysis of electrical impedance myography of the lateral tongue. Physiological Measurement, 41(12). View this article in WRRO
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C , Hornstein E et al (2020) Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Reports, 33(9), ---. View this article in WRRO
Franklin JP, Azzouz M & Shaw PJ (2020) SOD1-targeting therapies for neurodegenerative diseases : a review of current findings and future potential. Expert Opinion on Orphan Drugs, 8(10), 379-392. View this article in WRRO
Verber N & Shaw PJ (2020) Biomarkers in amyotrophic lateral sclerosis : a review of new developments. Current Opinion in Neurology, 33(5), 662-668. View this article in WRRO
Crooks L, Cooper-Knock J, Heath PR, Bouhouche A, Elfahime M, Azzouz M, Bakri Y, Adnaoui M, Ibrahimi A, Amzazi S & Tazi-Ahnini R (2020) Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing. BMC Genetics, 21(1).
Sproson L, Lanfranchi V, Collins A, Chhetri SK, Daly N, Ennis M, Glennon L, Gorrie G, Jay E, Marsden R , McCarthy AD et al (2020) Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22(1-2), 38-45. View this article in WRRO
Chambers A, Bury JJ, Minett T, Richardson CD, Brayne C, Ince PG, Shaw PJ, Garwood CJ, Heath PR, Simpson JE , Matthews FE et al (2020) Advanced glycation end product formation in human cerebral cortex increases with Alzheimer-type neuropathologic changes but is not independently associated with dementia in a population-derived aging brain cohort. Journal of Neuropathology & Experimental Neurology, 79(9), 950-958. View this article in WRRO
Camu W, Mickunas M, Veyrune J-L, Payan C, Garlanda C, Locati M, Juntas-Morales R, Pageot N, Malaspina A, Andreasson U , Kirby J et al (2020) Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial. EBioMedicine, 59. View this article in WRRO
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M , Turkowski KL et al (2020) Transethnic genome-wide association study provides insights in the genetic architecture and heritability of Long QT syndrome. Circulation, 142(4), 324-338. View this article in WRRO
Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, Genge A, Glass J, Ladha S, Ludolph AL , Maragakis NJ et al (2020) Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 383(2), 109-119. View this article in WRRO
Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ & Hanna MG (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(7-8), 627-630. View this article in WRRO
Giovannelli I, Heath P, Shaw PJ & Kirby J (2020) The involvement of regulatory T cells in amyotrophic lateral sclerosis and their therapeutic potential. Amyotrophic lateral sclerosis & frontotemporal degeneration, 21(5-6), 435-444. View this article in WRRO
Lorente Pons A, Higginbottom A, Cooper‐Knock J, Alrafiah A, Alofi E, Kirby J, Shaw PJ, Wood JD & Highley JR (2020) Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis. The Journal of Pathology, 251(3), 262-271. View this article in WRRO
Tazelaar GHP, Boeynaems S, De Decker M, van Vugt JJFA, Kool L, Goedee HS, McLaughlin RL, Sproviero W, Iacoangeli A, Moisse M , Jacquemyn M et al (2020) ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization. Brain Communications, 2(2). View this article in WRRO
Weinreich M, Shepheard S, Verber N, Wyles M, Heath P, Highley JR, Kirby J & Shaw P (2020) Neuropathological characterisation of a novel TBK1 loss of function mutation associated with amyotrophic lateral sclerosis. Neuropathology & Applied Neurobiology, 46(3), 279-291. View this article in WRRO
Moll T, Shaw PJ & Cooper-Knock J (2020) Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration. Brain, 143(5), 1332-1340. View this article in WRRO
Bell SM, De Marco M, Barnes K, Shaw PJ, Ferraiuolo L, Blackburn DJ, Mortiboys H & Venneri A (2020) Deficits in mitochondrial spare respiratory capacity contribute to the neuropsychological changes of alzheimer’s disease. Journal of Personalized Medicine, 10(2). View this article in WRRO
Opie-Martin S, Jones A, Iacoangeli A, Al-Khleifat A, Oumar M, Shaw PJ, Shaw CE, Morrison KE, Wootton RE, Davey-Smith G , Pearce N et al (2020) UK case control study of smoking and risk of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21(3-4), 222-227. View this article in WRRO
Cudkowicz M, Miller T, Shaw P, Bennett CF, Lane R, Chang I, Liu Y, Chen W, Nestorov I, Graham D , Fanning L et al (2020) Tofersen, a SOD1 Antisense Oligonucleotide in Participants with ALS – Results From a Multiple Dose Study (657). Neurology, 94(15_supplement).
Bell S, De Marco M, Barnes K, Shaw P, Ferraiuolo L, Blackburn D, Mortiboys H & Venneri A (2020) Do deficits in Mitochondrial Spare Respiratory Capacity contribute to Neuropsychological changes seen in Alzheimer’s disease? (798). Neurology, 94(15_supplement).
Alix JJP, McDonough HE, Sonbas B, French SJ, Rao DG, Kadirkamanathan V, McDermott CJ, Healey TJ & Shaw PJ (2020) Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis. Clinical Neurophysiology, 131(4), 799-808. View this article in WRRO
Jenkins TM, Alix JJP, Fingret J, Esmail T, Hoggard N, Baster K, McDermott CJ, Wilkinson ID & Shaw PJ (2020) Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology, 267(1), 244-256. View this article in WRRO
Jenkins TM, Alix JJP, Fingret J, Esmail T, Hoggard N, Baster K, McDermott CJ, Wilkinson ID & Shaw PJ (2020) Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease. Journal of Neurology, 267(1), 257-258.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E , Wu G et al (2020) Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 23(2), 295-295.
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B , Ravid R et al (2019) Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science Translational Medicine, 11(523). View this article in WRRO
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E , Wu G et al (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22(12), 1966-1974. View this article in WRRO
Allen SP, Hall B, Woof R, Francis L, Gatto N, Shaw AC, Myszczynska M, Hemingway J, Coldicott I, Willcock A , Job L et al (2019) C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis. Brain, 142(12), 3771-3790. View this article in WRRO
Iacoangeli A, Al Khleifat A, Jones AR, Sproviero W, Shatunov A, Opie-Martin S, Morrison KE, Shaw PJ, Shaw CE, Fogh I , Dobson RJ et al (2019) C9orf72 intermediate expansions of 24–30 repeats are associated with ALS. Acta Neuropathologica Communications, 7(1). View this article in WRRO
Essat M, Archer R, Williams I, Zarotti N, Coates E, Clowes M, Beever D, Hackney G, White S, Stavroulakis T , White D et al (2019) Interventions to promote oral nutritional behaviours in people living with neurodegenerative disorders of the motor system : a systematic review. Clinical Nutrition. View this article in WRRO
van Eijk RPA, Nikolakopoulos S, Roes KCB, Middelkoop BM, Ferguson TA, Shaw PJ, Leigh PN, Al-Chalabi A, Eijkemans MJC & van den Berg LH (2019) Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials. Journal of Neurology, Neurosurgery & Psychiatry, 90(12), 1331-1337. View this article in WRRO
Zarotti N, Coates E, McGeachan A, Williams I, Beever D, Hackney G, Norman P, Stavroulakis T, White D, White S , Halliday V et al (2019) Health care professionals’ views on psychological factors affecting nutritional behaviour in people with motor neuron disease : a thematic analysis. British Journal of Health Psychology, 24(4), 953-969. View this article in WRRO
Hobson E, Baird W, Bradburn M, Cooper C, Mawson S, Quinn A, Shaw PJ, Walsh T & McDermott CJ (2019) Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre. BMJ Open, 9. View this article in WRRO
Hobson EV, Baird WO, Bradburn M, Cooper C, Mawson S, Quinn A, Shaw PJ, Walsh T & McDermott CJ (2019) Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care : a UK-based pilot and feasibility study. BMJ Open, 9(10). View this article in WRRO
Wharton SB, Verber NS, Wagner BE, Highley JR, Fillingham DJ, Waller R, Strand K, Ince PG & Shaw PJ (2019) Combined FUS+ Basophilic Inclusion Body Disease and Atypical Tauopathy Presenting with an ALS/MND-plus Phenotype.. Neuropathology and Applied Neurobiology, 45(6), 586-596. View this article in WRRO
Al-Chalabi A, Shaw P, Leigh PN, van den Berg L, Hardiman O, Ludolph A, Aho VV, Sarapohja T & Kuoppamäki M (2019) Oral levosimendan in amyotrophic lateral sclerosis : a phase II multicentre, randomised, double-blind, placebo-controlled trial. Journal of Neurology, Neurosurgery & Psychiatry, 90(10), 1165-1170. View this article in WRRO
Gao S, Guo X, Zhao S, Jin Y, Zhou F, Yuan P, Cao L, Wang J, Qiu Y, Sun C , Kang Z et al (2019) Differentiation of human adipose-derived stem cells into neuron/motoneuron-like cells for cell replacement therapy of spinal cord injury. Cell Death & Disease, 10(8). View this article in WRRO
Weeks K, Gould R, McDermott C, Lynch J, Goldstein L, Graham C, McCracken L, Serfaty M, Howard R, Al-Chalabi A , White D et al (2019) Needs and preferences for psychological interventions of people with motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(7-8), 521-531. View this article in WRRO
Mistry S, Hosty J, Patil A, McDermott C, Shaw P & Jenkins T (2019) Predicting benign brachial monomelic amyotrophy: factors at presentation that differentiate from amyotrophic lateral sclerosis (P1.4-016). Neurology, 92(15_supplement).
Toh C, Keslake A, Harding J, Baster K, Hoggard N, Bigley J, McDermott CJ, Shaw PJ, Wilkinson ID & Jenkins TM (2019) Investigating Directionality of Neurodegeneration in vivo in ALS using Multimodal MRI (P1.4-001). Neurology, 92(15_supplement).
Verber NS, Shepheard SR, Sassani M, McDonough HE, Moore SA, Alix JJP, Wilkinson ID, Jenkins TM & Shaw PJ (2019) Biomarkers in Motor Neuron Disease: A State of the Art Review. Frontiers in Neurology, 10. View this article in WRRO
van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P , Genge A et al (2019) Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology, 92(14), e1610-e1623. View this article in WRRO
Bandres‐Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, Arosio A, Barberis M, Bartolomei I, Battistini S , Benigni M et al (2019) Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Annals of Neurology, 85(4), 470-481. View this article in WRRO
Al Khleifat A, Iacoangeli A, Shatunov A, Fang T, Sproviero W, Jones AR, Opie-Martin S, Morrison KE, Shaw PJ, Shaw CE , Powell JF et al (2019) Telomere length is greater in ALS than in controls: a whole genome sequencing study.. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 20(3-4), 229-234. View this article in WRRO
Allen S, Hall B, Castelli L, Frances L, Woof R, Siskos A, Kouloura E, Gray E, Thompson A, Talbot K , Higginbottom A et al (2019) Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis. Brain, 142(3), 586-605. View this article in WRRO
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M , Robberecht W et al (2019) Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. Cell Reports, 26(9), 2298-2306.e5. View this article in WRRO
Gkazi SA, Troakes C, Topp S, Miller JW, Vance CA, Sreedharan J, Al-Chalabi A, Kirby J, Shaw PJ, Al-Sarraj S , King A et al (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging, 73, 229.e5-229.e9. View this article in WRRO
Hewamadduma CA, Hoggard N, O'Malley R, Robinson MK, Beauchamp NJ, Segamogaite R, Martindale J, Rodgers T, Rao G, Sarrigiannis P , Shanmugarajah P et al (2018) Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurology Genetics, 4(6), e279-e279. View this article in WRRO
Shaw MP, Higginbottom A, Mcgown A, Castelli LM, James E, Hautbergue GM, Shaw PJ & Ramesh TM (2018) Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Acta Neuropathologica Communications, 6(1). View this article in WRRO
de Majo M, Topp SD, Smith BN, Nishimura AL, Chen H-J, Gkazi AS, Miller J, Wong CH, Vance C, Baas F , ten Asbroek ALMA et al (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71, 266.e1-266.e10. View this article in WRRO
Bell SM, Barnes K, Clemmens H, Al-Rafiah AR, Al-ofi EA, Leech V, Bandmann O, Shaw PJ, Blackburn DJ, Ferraiuolo L & Mortiboys H (2018) Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with either Sporadic or Familial Alzheimer's Disease. Journal of Molecular Biology, 430(21), 3942-3953. View this article in WRRO
Project MASC, van Rheenen W, Pulit SL, Dekker AM, Al Khleifat A, Brands WJ, Iacoangeli A, Kenna KP, Kavak E, Kooyman M , McLaughlin RL et al (2018) Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. European Journal of Human Genetics, 26(10), 1537-1546. View this article in WRRO
Mehta PR, Jones AR, Opie-Martin S, Shatunov A, Iacoangeli A, Al Khleifat A, Smith BN, Topp S, Morrison KE, Shaw PJ , Shaw CE et al (2018) Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias. Journal of Neurology, Neurosurgery and Psychiatry. View this article in WRRO
Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng H-J, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL , Sproviero W et al (2018) Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of Aging. View this article in WRRO
Mary M, Ruta S, Pamela S, Christopher M, Claudia M & Channa H (2018) THUR 229 Inertial sensors improve traditional gait monitoring in HSP patients. Journal of Neurology, Neurosurgery & Psychiatry, 89(10), A33.2-A33.
Iannitti T, Scarrott J, Likhite S, Coldicott IRP, Lewis KE, Heath PR, Higginbottom A, Myszczynska MA, Milo M, Hautbergue GM , Meyer K et al (2018) Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS. Molecular Therapy : Nucleic Acids, 12, 75-88. View this article in WRRO
Ferraiuolo L & Shaw P (2018) Lost in translation: microRNAs mediate pathological cross-talk between motor neurons and astrocytes. Brain, 141(9), 2534-2536. View this article in WRRO
Pancani S, Tindale W, Shaw PJ, Mazzà C & McDermott CJ (2018) Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis. Clinical Biomechanics, 57, 114-120. View this article in WRRO
Consortium PMALSS, Veldink JH, Shaw PJ, Tazelaar GHP, van Rheenen W, Pulit SL, van der Spek R, Dekker AM, Moisse M, McLaughlin RL , Sproviero W et al (2018) CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?. Annals of Neurology, 1, 110-116. View this article in WRRO
Lovewell T, McDonagh A, Messenger A, Azzouz M & Tazi-Ahnini R (2018) Meta-analysis of autoimmune regulator-regulated genes in human and murine models: a novel human model provides insights on the role of autoimmune regulator in regulating STAT1 and STAT1-regulated genes. Frontiers in Immunology, 9. View this article in WRRO
Alrafiah A, Karyka E, Coldicott I, Iremonger K, Lewis K, Ning K & Azzouz M (2018) Plastin 3 promotes motor neuron axonal growth and extends survival in a mouse model of spinal muscular atrophy. Molecular Therapy - Methods and Clinical Development, 9, 81-89. View this article in WRRO
Westeneng H-J, Debray TPA, Visser AE, van Eijk RPA, Rooney JPK, Calvo A, Martin S, McDermott CJ, Thompson AG, Pinto S , Kobeleva X et al (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. The Lancet Neurology, 17(5), 423-433. View this article in WRRO
Vogt MA, Ehsaei Z, Knuckles P, Higginbottom A, Helmbrecht MS, Kunath T, Eggan K, Williams LA, Shaw PJ, Wurst W , Floss T et al (2018) TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons. Scientific Reports, 8(1). View this article in WRRO
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P , Rivera AM et al (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron, 97(6), 1268-1283.e6. View this article in WRRO
Pierry IA, Alix JJP, Rao DG, Hoggard N, Bigley J, McDermott CJ, Wilkinson ID, Shaw PJ & Jenkins TM (2018) Longitudinal Diffusion-Weighted Whole-Body MRI Demonstrates Dynamic Changes in Muscle Integrity in Motor Neuron Disease. Journal of Neuromuscular Diseases, 5(1), 107-107.
Jenkins T, Alix J, David C, Pearson E, Ganesh Rao D, Hoggard N, O'Brien E, Baster K, Bradburn M, Bigley J , McDermott C et al (2018) Imaging muscle as a potential biomarker of denervation in motor neuron disease. Journal of Neurology, Neurosurgery, and Psychiatry, 89(3), 248-255. View this article in WRRO
Hobson EV, Baird WO, Partridge R, Cooper CL, Mawson S, Quinn A, Shaw PJ, Walsh T, Wolstenholme D & Mcdermott CJ (2018) The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(5-6), 351-361. View this article in WRRO
Langley J, Pancani S, Kilner K, Reed H, Stanton A, Heron N, Judge S, McCarthy A, Baxter S, Mazza C & McDermott C (2018) A comfort assessment of existing cervical orthoses. Ergonomics, 61(2), 329-338. View this article in WRRO
Castelli LM, Lin YH, Ferraiuolo L, Sanchez-Martinez A, Ning KE, Azzouz M, Whitworth A, Shaw PJ & Hautbergue GM (2018) SRSF1-dependent nuclear export of C9ORF72 repeat transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection. Therapeutic Targets for Neurological Diseases, 4. View this article in WRRO
Waller R, Wyles M, Heath PR, Kazoka M, Wollff H, Shaw P & Kirby J (2018) Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity. Frontiers in Neuroscience, 11. View this article in WRRO
van der Spek RA, van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, Mclaughlin RL, Moisse M, van Eijk KR, van Vugt JJFA , Iacoangeli A et al (2018) Reconsidering the causality of TIA1 mutations in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 19(1-2), 1-3. View this article in WRRO
Hosty J, Patil A, Jenkins T & Shaw DP (2017) 1736 Diagnostic classification of lower motor neuron disorders. Journal of Neurology, Neurosurgery & Psychiatry, 88(Suppl 1), A5.2-A5.
Ciervo Y, Ning K, Jun X, Shaw PJ & Mead RJ (2017) Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 12, 85-85. View this article in WRRO
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Ince PG, Hautbergue GM , McDermott CJ et al (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience, 10, 370-370. View this article in WRRO
Chandran JS, Sharp PS, Karyka E, Aves-Cruzeiro JMDC, Coldicott I, Castelli L, Hautbergue G, Collins MO & Azzouz M (2017) Site Specific Modification of Adeno-Associated Virus Enables Both Fluorescent Imaging of Viral Particles and Characterization of the Capsid Interactome. Scientific Reports, 7(1). View this article in WRRO
Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z & van den Berg LH (2017) Amyotrophic lateral sclerosis. Nature Reviews Disease Primers, 3.
Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z & Van Den Berg LH (2017) Amyotrophic lateral sclerosis. Nature Reviews Disease Primers, 3. View this article in WRRO
Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T , Grosskreutz J et al (2017) July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-4. View this article in WRRO
van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J , Borghero G et al (2017) Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.. Neurology. View this article in WRRO
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH , Kingsbury Z et al (2017) Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Research, 27(11), 1895-1903. View this article in WRRO
Walker C, Herranz-Martin S, Karyka E, Liao C, Lewis K, Elsayed W, Lukashchuk V, Chiang S-C, Ray S, Mulcahy PJ , Jurga M et al (2017) C9orf72 expansion disrupts ATM-mediated chromosomal break repair. Nature Neuroscience, 20(9), 1225-1235. View this article in WRRO
Herranz-Martin S, Chandran J, Lewis K, Mulcahy P, Higginbottom A, Walker C, Valenzuela IM-PY, Jones RA, Coldicott I, Iannitti T , Akaaboune M et al (2017) Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits. Disease Models & Mechanisms, 10(7), 859-868. View this article in WRRO
Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, myszczynska MA , Alam SM et al (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nature Communications, 8(-), ---. View this article in WRRO
Waller R, Goodall EF, milo M, Cooper-Knock J, Da Costa M, Hobson E, Kazoka M, Wollff H, Heath PR, Shaw P & Kirby J (2017) Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). Neurobiology of Aging, 55, 123-131. View this article in WRRO
Smith EF, Shaw PJ & De Vos KJ (2017) The Role of Mitochondria in Amyotrophic Lateral Sclerosis. Neuroscience Letters. View this article in WRRO
Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ , Shaw CE et al (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain, 140(6), 1611-1618. View this article in WRRO
Phelps K, Regen E, Oliver D, McDermott C & Faull C (2017) Withdrawal of ventilation at the patient's request in MND: a retrospective exploration of the ethical and legal issues that have arisen for doctors in the UK. BMJ Supportive & Palliative Care, 7(2), 189-196. View this article in WRRO
Oliver D, Radunovic A, Allen A & McDermott C (2017) The development of the UK National Institute of Health and Care Excellence evidence-based clinical guidelines on motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 313-323. View this article in WRRO
Baxter SK & McDermott CJ (2017) Decision-making and referral processes for patients with motor neurone disease: a qualitative study of GP experiences and evaluation of a new decision-support tool. BMC Health Services Research, 17. View this article in WRRO
Smith BN, Topp SD, Fallini C, Shibata H, Chen H-J, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A , Miller JW et al (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9(388). View this article in WRRO
Webster C, Smith E, Shaw P & De Vos K (2017) Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?. Front. Mol. Neurosci., 10, 123-123. View this article in WRRO
McGeachan AJ & Mcdermott CJ (2017) Management of oral secretions in neurological disease.. Practical Neurology, 17(2), 96-103. View this article in WRRO
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O’Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A , van den Berg LH et al (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. View this article in WRRO
Cooper-Knock J, Green C, Altschuler G, Wei W, Bury JJ, Heath PR, Wyles M, Gelsthorpe C, Highley JR, Lorente-Pons A , Beck T et al (2017) A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis.. Acta Neuropathol Commun, 5(1), 23-23. View this article in WRRO
Stopford M, Higginbottom A, Hautbergue , Cooper-Knock , Mulcahy , De Vos K, Renton A, Pliner H, Calvo A, Chio A , Traynor B et al (2017) C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten. Human Molecular Genetics, 26(6), 1133-1145. View this article in WRRO
Hobson EV, Fazal S, Shaw PJ & McDermott CJ (2017) “Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(5-6), 378-387. View this article in WRRO
Pancani S, Tindale W, Shaw PJ, McDermott CJ & Mazza C (2017) An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis. PLoS One. View this article in WRRO
Fang T, Al Khleifat A, Stahl DR, Lazo La Torre C, Murphy C, Young C, Shaw PJ, Leigh PN & Al-Chalabi A (2017) Comparison of the King’s and MiToS staging systems for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-6. View this article in WRRO
McGeachan AJ, Hobson EV, Al-Chalabi A, Stephenson J, Chandran S, Crawley F, Dick D, Donaghy C, Ellis CM, Gorrie G , Hanemann OC et al (2017) A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 18(1-2), 1-9. View this article in WRRO
Rafiq MK, Bradburn M, Mustfa N, Mcdermott CJ & Annane D (2016) Mechanical cough augmentation techniques in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database of Systematic Reviews, 2016(12). View this article in WRRO
Ferraiuolo L, Meyer K, Sherwood T, Vick J, Likhite S, Frakes AE, Miranda C, Braun L, Heath PR, Pineda R , Beattie CE et al (2016) Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism. Proceedings of the National Academy of Sciences, 113(42), E6496-E6505. View this article in WRRO
Sivadasan R, Hornburg D, Drepper C, Frank N, Jablonka S, Hansel A, Lojewski X, Sterneckert J, Hermann A, Shaw PJ , Ince PG et al (2016) C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.. Nature Neuroscience. View this article in WRRO
Glajch KE, Ferraiuolo L, Mueller KA, Stopford MJ, Prabhkar V, Gravanis A, Shaw PJ & Sadri-Vakili G (2016) MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis.. PLoS One, 11(10), e0164103-e0164103. View this article in WRRO
Nardo G, Trolese MC, de Vito G, Cecchi R, Riva N, Dina G, Heath PR, Quattrini A, Shaw PJ, Piazza V & Bendotti C (2016) Immune response in peripheral axons delays disease progression in SOD1(G93A) mice.. Journal of Neuroinflammation, 13(1), 261-261. View this article in WRRO
Rooney J, Fogh I, Westeneng HJ, Vajda A, McLaughlin R, Heverin M, Jones A, van Eijk R, Calvo A, Mazzini L , Shaw C et al (2016) C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry. View this article in WRRO
Stavroulakis T & McDermott CJ (2016) Enteral feeding in neurological disorders. Practical Neurology, 16, 352-361. View this article in WRRO
Gaastra B, Shatunov A, Pulit S, Jones AR, Sproviero W, Gillett A, Chen Z, Kirby J, Fogh I, Powell JF , Leigh PN et al (2016) Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1-7. View this article in WRRO
Hobson EV, Harwood CA, McDermott CJ & Shaw PJ (2016) Clinical aspects of motor neurone disease. Medicine, 44(9), 552-556. View this article in WRRO
Jenkins TM, Alix JJP, Kandler RH, Shaw PJ & McDermott CJ (2016) The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis. Muscle & Nerve, 54(3), 378-385. View this article in WRRO
Hobson EV & McDermott CJ (2016) Supportive and symptomatic management of amyotrophic lateral sclerosis. Nature Reviews Neurology, 12, 526-538. View this article in WRRO
Webster CP, Smith EF, Bauer CS, Moller A, Hautbergue GM, Ferraiuolo L, Myszczynska MA, Higginbottom A, Walsh MJ, Whitworth AJ , Kaspar BK et al (2016) The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy. EMBO Journal, 35(15), 1656-1676. View this article in WRRO
McGown A, Shaw DPJ & Ramesh T (2016) ZNStress: A high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis. Molecular Neurodegeneration, 11(1), 56-56. View this article in WRRO
Kenna KP, van Doormaal PTC, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P , Shatunov A et al (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48(9), 1037-1042. View this article in WRRO
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR , Yang J et al (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.. Nature Genetics. View this article in WRRO
Azzouz M (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight, 1(11). View this article in WRRO
Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P , Jones A et al (2016) Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. JAMA Neurology, 73(7), 812-820. View this article in WRRO
McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Cohen J, Cantrill H, Dixon S, Ackroyd R , Baudouin S et al (2016) DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.. Health Technol Assess, 20(45), 1-186. View this article in WRRO
Rafiq MK, Lee E, Bradburn M, McDermott CJ & Shaw PJ (2016) Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis. European Journal of Neurology, 23(6), 1071-1078.
Highley JR, Pons AL, Cooper‐Knock J, Wharton SB, Ince PG, Shaw PJ, Wood J & Kirby J (2016) Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate‐length CAG repeat expansions in Ataxin‐2 does not have 1C2‐positive polyglutamine inclusions. Neuropathology and Applied Neurobiology, 42(4), 377-389. View this article in WRRO
Seytanoglu A, Alsomali NI, Valori CF, McGown A, Kim HR, Ning K, Ramesh T, Sharrack B, Wood JD & Azzouz M (2016) Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. Neuroscience, 322, 287-297. View this article in WRRO
Morgan WJ, VanDevanter DR, Pasta DJ, Foreman AJ, Wagener JS, Konstan MW, Morgan W, Konstan M, Liou T, McColley S , McMullen A et al (2016) Forced Expiratory Volume in 1 Second Variability Helps Identify Patients with Cystic Fibrosis at Risk of Greater Loss of Lung Function. The Journal of Pediatrics, 169, 116-121.e2.
Bury JJ, Highley JR, Cooper‐Knock J, Goodall EF, Higginbottom A, McDermott CJ, Ince PG, Shaw PJ & Kirby J (2016) Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP‐43‐negative inclusions of C9ORF72‐ALS. Neuropathology, 36(2), 125-134. View this article in WRRO
Beer AM, Cooper-Knock J, Fletcher S, Brown-Wright SH, Nandakumar TP & Shaw PJ (2016) Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(7-8), 614-616. View this article in WRRO
Janssens AIWA, Ruytings M, Al-Chalabi A, Chio A, Hardiman O, Mcdermott CJ, Meyer T, Mora G, Van Damme P, Van Den Berg LH , Vanhaecht K et al (2016) A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 325-336.
Oeckl P, Jardel C, Salachas F, Lamari F, Andersen PM, Bowser R, de Carvalho M, Costa J, van Damme P, Gray E , Grosskreutz J et al (2016) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 404-413. View this article in WRRO
Hobson EV, Baird W, Cooper C, Mawson S, Shaw P & McDermott C (2016) Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review. Amyotrophic Lateral Sclerosis && Frontotemporal Degeneration, 17(5-6), 313-324. View this article in WRRO
Harwood CA, Westgate K, Gunstone S, Brage S, Wareham NJ, McDermott CJ & Shaw PJ (2016) Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(5-6), 377-384. View this article in WRRO
Baxter SK, Reed H, Clarke Z, Judge S, Heron N, McCarthy A, Langley J, Stanton A, Wells O, Squire G , Quinn A et al (2016) Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness. Amyotrophic Lateral Sclerosis, 17(5-6), 436-442. View this article in WRRO
Lukashchuk V, Lewis KE, Coldicott I, Grierson AJ & Azzouz M (2016) AAV9-mediated central nervous system–targeted gene delivery via cisterna magna route in mice. Molecular Therapy - Methods and Clinical Development, 3. View this article in WRRO
Rafiq MK, Mcdermott C & Shaw P (2016) Evidence-based or arrogance-based medicine?. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 17(3-4), 305-306.
Simpson JE, Ince PG, Minett T, Matthews FE, Heath PR, Shaw PJ, Goodall E, Garwood CJ, Ratcliffe LE, Brayne C , Rattray M et al (2016) Neuronal DNA damage response-associated dysregulation of signalling pathways and cholesterol metabolism at the earliest stages of Alzheimer-type pathology. Neuropathology and Applied Neurobiology, 42(2), 167-179. View this article in WRRO
Lo C, Barker A, Kershaw H, Hickman SJ & McDermott CJ (2016) Rueing the Roux-en-Y. Practical Neurology, 16(3), 227-230.
Pancani S, Rowson J, Tindale W, Heron N, Langley J, McCarthy AD, Quinn A, Reed H, Stanton A, Shaw PJ , McDermott CJ et al (2016) Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness. Clinical Biomechanics, 32, 201-206. View this article in WRRO
McDermott CJ & Stavroulakis T (2015) Gastrostomy in amyotrophic lateral sclerosis: effects of non-invasive ventilation – Authors' reply. The Lancet Neurology, 14(12), 1153-1153.
Rafiq MK, Bradburn M, Proctor AR, Billings CG, Bianchi S, McDermott CJ & Shaw PJ (2015) A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 448-455. View this article in WRRO
Fluteau A, Ince PG, Minett T, Matthews FE, Brayne C, Garwood CJ, Ratcliffe LE, Morgan S, Heath PR, Shaw PJ , Wharton SB et al (2015) The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain. Neuroscience Letters, 609, 11-17. View this article in WRRO
Rafiq MK & Shaw PJ (2015) Cough assistance to clear lungs of ALS patients with severe bulbar dysfunction: Not a good idea!. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 534-535. View this article in WRRO
Baker DJ, Blackburn DJ, Keatinge M, Sokhi D, Viskaitis P, Heath PR, Ferraiuolo L, Kirby J & Shaw PJ (2015) Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis. Frontiers in Cellular Neuroscience, 9. View this article in WRRO
Reed H, Langley J, Stanton A, Heron N, Clarke Z, Judge S, McCarthy A, Squire G, Quinn A, Wells O , Tindale W et al (2015) Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle weakness. Journal of Medical Engineering & Technology, 39(7), 404-410.
Wong CH, Topp S, Gkazi AS, Troakes C, Miller JW, de Majo M, Kirby J, Shaw PJ, Morrison KE, de Belleroche J , Vance CA et al (2015) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging, 36(10), 2908.e17-2908.e18. View this article in WRRO
Allen SP, Duffy LM, Shaw PJ & Grierson AJ (2015) Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 36(10), 2893-2903. View this article in WRRO
McDermott C, Shaw P, Cooper C, Dixon S, Baird W, Bradburn M, Fitzgerald P, Maguire C, Williams T, Baudouin S , Karat D et al (2015) Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. The Lancet Neurology, 14(9), 883-892. View this article in WRRO
Sharp PS, Shaw K, Boorman L, Harris S, Kennerley A, Azzouz M & Berwick J (2015) Comparison of stimulus-evoked cerebral hemodynamics in the awake mouse and under a novel anesthetic regime. Scientific Reports, 5. View this article in WRRO
Tian X, Nyberg S, S. Sharp P, Madsen J, Daneshpour N, Armes SP, Berwick J, Azzouz M, Shaw P, Abbott NJ & Battaglia G (2015) LRP-1-mediated intracellular antibody delivery to the Central Nervous System. Scientific Reports, 5(-), ---. View this article in WRRO
Smith L, Cupid BC, Dickie BGM, Al-Chalabi A, Morrison KE, Shaw CE & Shaw PJ (2015) Establishing the UK DNA Bank for motor neuron disease (MND). BMC Genetics, 16. View this article in WRRO
Rafiq MK, Lee E, Bradburn M, McDermott CJ & Shaw PJ (2015) Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 478-484. View this article in WRRO
Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM & Shaw PJ (2015) Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathologica, 130(1), 63-75. View this article in WRRO
Malaspina A, Mills E, Donaghy C, McLaughlin B, Morrison K, Jew H, Gorrie G, Al-Chalabi A, Chapman S, Dougherty A , Johnson M et al (2015) Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. The Lancet Neurology, 14(7), 702-709. View this article in WRRO
van der Kleij LA, Jones AR, Steen IN, Young CA, Shaw PJ, Shaw CE, Leigh PN, Turner MR & Al-Chalabi A (2015) Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(7-8), 442-447. View this article in WRRO
Simpson JE, Ince PG, Matthews FE, Shaw PJ, Heath PR, Brayne C, Garwood C, Higginbottom A & Wharton SB (2015) A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort. Neuropathology and Applied Neurobiology, 41(4), 483-496. View this article in WRRO
Cooper-Knock J, Bury JJ, Heath PR, Wyles M, Higginbottom A, Gelsthorpe C, Highley JR, Hautbergue G, Rattray M, Kirby J & Shaw PJ (2015) C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PLOS ONE, 10(5), e0127376-e0127376. View this article in WRRO
Scarrott JM, Herranz-Martín S, Alrafiah AR, Shaw PJ & Azzouz M (2015) Current developments in gene therapy for amyotrophic lateral sclerosis. Expert Opinion on Biological Therapy, 15(7), 935-947. View this article in WRRO
Jones AR, Troakes C, King A, Sahni V, De Jong S, Bossers K, Papouli E, Mirza M, Al-Sarraj S, Shaw CE , Shaw PJ et al (2015) Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes. Neurobiology of Aging, 36(5), 2006.e1-2006.e9. View this article in WRRO
Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang L, Liu T, Lassen CF, Meissner E , Alexopoulos P et al (2015) The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. Alzheimer's & Dementia, 11(12), 1407-1416. View this article in WRRO
Nicholls Z, Hobson E, Martindale J & Shaw PJ (2015) Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis: Table 1. Practical Neurology, 15(4), 280-283. View this article in WRRO
Cooper-Knock J, Kirby J, Highley R & Shaw PJ (2015) The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics, 12(2), 326-339. View this article in WRRO
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu Y-F, Wang Q, Krueger BJ , Ren Z et al (2015) Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science, 347(6229), 1436-1441.
Mathur R, Ince PG, Minett T, Garwood CJ, Shaw PJ, Matthews FE, Brayne C, Simpson JE & Wharton SB (2015) A Reduced Astrocyte Response to β-Amyloid Plaques in the Ageing Brain Associates with Cognitive Impairment. PLoS One, 10(2).
Walsh MJ, Cooper-Knock J, Dodd JE, Stopford MJ, Mihaylov SR, Kirby J, Shaw PJ & Hautbergue GM (2015) Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathology and Applied Neurobiology, 41(2), 109-134. View this article in WRRO
Little D, Valori CF, Mutsaers CA, Bennett EJ, Wyles M, Sharrack B, Shaw PJ, Gillingwater TH, Azzouz M & Ning K (2015) PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy. Molecular Therapy, 23(2), 270-277. View this article in WRRO
Raman R, Allen SP, Goodall EF, Kramer S, Ponger L-L, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR , Olpin S et al (2015) Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions. Neuropathology and Applied Neurobiology, 41(2), 201-226. View this article in WRRO
Mulcahy PJ, Binny C, Muszynski B, Karyka E & Azzouz M (2015) Adeno-Associated Vectors for Gene Delivery to the Nervous System, 1-22.
Sharp PS, Shaw K, Boorman L, Harris S, Kennerley AJ, Azzouz M & Berwick J (2015) Erratum: Corrigendum: Comparison of stimulus-evoked cerebral hemodynamics in the awake mouse and under a novel anesthetic regime. Scientific Reports, 5(1).
(2015) Lifeline. The Lancet Neurology, 14(7), 690-690.
Marino M, Papa S, Crippa V, Nardo G, Peviani M, Cheroni C, Trolese MC, Lauranzano E, Bonetto V, Poletti A , DeBiasi S et al (2015) Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis. Neurobiology of Aging, 36(1), 492-504. View this article in WRRO
Agosta F, Al-Chalabi A, Filippi M, Hardiman O, Kaji R, Meininger V, Nakano I, Shaw P, Shefner J, van den Berg LH & Ludolph A (2015) The El Escorial criteria: Strengths and weaknesses. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(1-2), 1-7. View this article in WRRO
Beer AM, Cooper-Knock J, Higginbottom A, Highley JR, Wharton SB, Ince PG, Milano A, Jones AA, Al-Chalabi A, Kirby J & Shaw PJ (2015) Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(3-4), 249-251. View this article in WRRO
McGeachan AJ, Hobson EV, Shaw PJ & McDermott CJ (2015) Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 16(1-2), 108-113. View this article in WRRO
Balendra R, Jones A, Jivraj N, Steen IN, Young CA, Shaw PJ, Turner MR, Leigh PN & Al-Chalabi A (2015) Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials. Journal of Neurology, Neurosurgery & Psychiatry, 86(1), 45-49. View this article in WRRO
Garwood CJ, Simpson JE, Al Mashhadi S, Axe C, Wilson S, Heath PR, Shaw PJ, Matthews FE, Brayne C, Ince PG & Wharton SB (2014) DNA damage response and senescence in endothelial cells of human cerebral cortex and relation to Alzheimer's neuropathology progression: a population-based study in the Medical Research Council Cognitive Function and Ageing Study (MRC-CFAS) cohort. Neuropathology and Applied Neurobiology, 40(7), 802-814.
Ramesh TM, Shaw PJ & McDearmid J (2014) A zebrafish model exemplifies the long preclinical period of motor neuron disease. Journal of Neurology, Neurosurgery & Psychiatry, 85(11), 1288-1289. View this article in WRRO
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW , Calini D et al (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84(2), 324-331. View this article in WRRO
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J , McDermott CJ et al (2014) Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones. Neuropathology and Applied Neurobiology, 40(6), 670-685.
Bennett EJ, Mead RJ, Azzouz M, Shaw PJ & Grierson AJ (2014) Early Detection of Motor Dysfunction in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis (ALS) Using Home Cage Running Wheels. PLoS ONE, 9(9), e107918-e107918. View this article in WRRO
Jenkins TM, Hollinger H & McDermott CJ (2014) The evidence for symptomatic treatments in amyotrophic lateral sclerosis. Current Opinion in Neurology, 27(5), 524-531.
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J , Hautbergue GM et al (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.. Brain, 137(7), 2040-2051. View this article in WRRO
Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH, van Es MA , Pasterkamp RJ et al (2014) C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis. Annals of Neurology, 76(1), 120-133.
Allen SP, Rajan S, Duffy L, Mortiboys H, Higginbottom A, Grierson AJ & Shaw PJ (2014) Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis. Neurobiology of Aging, 35(6), 1499-1509.
Stavroulakis T, Baird WO, Baxter SK, Walsh T, Shaw PJ & McDermott CJ (2014) The impact of gastrostomy in motor neurone disease: challenges and benefits from a patient and carer perspective. BMJ Supportive & Palliative Care, 6(1), 52-59.
Mulcahy PJ, Iremonger K, Karyka E, Herranz-Martín S, Shum K-T, Tam JKV & Azzouz M (2014) Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy. Human Gene Therapy, 25(7), 575-586.
Tam JKV, Karyka E & Azzouz M (2014) Current and investigational treatments for spinal muscular atrophy. Expert Opinion on Orphan Drugs, 2(5), 465-476.
Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) GGGGCC Repeat Expansion of C9ORF72 Is Toxic Via Sequestration Of RNA Binding Proteins And Consequent Disruption Of RNA Splicing (S56.004). Neurology, 82(10_supplement).
Cooper-Knock J, Walsh M, Higginbottom A, Highley JR, Bury J, Dickman M, Rattray M, Heath P, Wyles M, Ince P , Wharton S et al (2014) GGGGCC Repeat Expansion of C9ORF72 Is Toxic Via Sequestration Of RNA Binding Proteins And Consequent Disruption Of RNA Splicing (1II-2.005). Neurology, 82(10_supplement).
Highley JR, Gebril OH, Simpson JE, Wharton SB, Kirby J, O'Brien JT, Barber R, Kalaria RN, Brayne C, Lewis CE , Shaw PJ et al (2014) Axonal Preservation in Deep Subcortical White Matter Lesions in the Ageing Brain. Journal of Aging Science, 2(1). View this article in WRRO
Stavroulakis T, Baird WO, Baxter SK, Walsh T, Shaw PJ & McDermott CJ (2014) Factors influencing decision-making in relation to timing of gastrostomy insertion in patients with motor neurone disease. BMJ Supportive & Palliative Care, 4(1), 57-63.
Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B , Rohrer JD et al (2014) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathologica, 127(3), 407-418. View this article in WRRO
Lehnert S, Costa J, de Carvalho M, Kirby J, Kuzma-Kozakiewicz M, Morelli C, Robberecht W, Shaw P, Silani V, Steinacker P , Tumani H et al (2014) Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 15(5-6), 344-350.
Yang D-J, Wang X-L, Ismail A, Ashman CJ, Valori CF, Wang G, Gao S, Higginbottom A, Ince PG, Azzouz M , Xu J et al (2014) PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons. Cell Death and Disease, 5(2). View this article in WRRO
Jones AR, Jivraj N, Balendra R, Murphy C, Kelly J, Thornhill M, Young C, Shaw PJ, Leigh PN, Turner MR , Steen IN et al (2014) Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 15(3-4), 285-291.
Cooper-Knock J, Shaw PJ & Kirby J (2014) The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathologica, 127(3), 333-345. View this article in WRRO
Lenglet T, Lacomblez L, Abitbol JL, Ludolph A, Mora JS, Robberecht W, Shaw PJ, Pruss RM, Cuvier V & Meininger V (2014) A phase II−III trial of olesoxime in subjects with amyotrophic lateral sclerosis. European Journal of Neurology, 21(3), 529-536.
Meyer K, Ferraiuolo L, Miranda CJ, Likhite S, McElroy S, Renusch S, Ditsworth D, Lagier-Tourenne C, Smith RA, Ravits J , Burghes AH et al (2014) Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proceedings of the National Academy of Sciences, 111(2), 829-832.
Alix JJP & Shaw PJ (2014) Thyroid Disease and the Nervous System, 329-350.
Wood-allum CA & Shaw PJ (2014) Thyroid disease and the nervous system, 703-735.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Soraru G, Cereda C, Corti S , Gentilini D et al (2014) A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Human Molecular Genetics, 23(8), 2220-2231.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The Impact on the Family Carer of Motor Neurone Disease and Intervention with Noninvasive Ventilation. Journal of Palliative Medicine, 16(12), 1602-1609.
Gibbons CJ, Thornton EW, Ealing J, Shaw PJ, Talbot K, Tennant A & Young CA (2013) Assessing social isolation in motor neurone disease: A Rasch analysis of the MND Social Withdrawal Scale. Journal of the Neurological Sciences, 334(1-2), 112-118.
Garwood C, Faizullabhoy A, Wharton SB, Ince PG, Heath PR, Shaw PJ, Baxter L, Gelsthorpe C, Forster G, Matthews FE , Brayne C et al (2013) Calcium dysregulation in relation to Alzheimer-type pathology in the ageing brain. Neuropathology and Applied Neurobiology, 39(7), 788-799.
Christou YA, Ohyama K, Placzek M, Monk PN & Shaw PJ (2013) Wild-type but not mutant SOD1 transgenic astrocytes promote the efficient generation of motor neuron progenitors from mouse embryonic stem cells. BMC Neuroscience, 14(1). View this article in WRRO
Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, Ninkina N, Buchman VL & Shaw PJ (2013) C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology, 81(19), 1719-1721.
Cooper-Knock J, Jenkins T & Shaw PJ (2013) Clinical and Molecular Aspects of Motor Neuron Disease. Colloquium Series on Genomic and Molecular Medicine, 2(2), 1-60.
Nardo G, Iennaco R, Fusi N, Heath PR, Marino M, Trolese MC, Ferraiuolo L, Lawrence N, Shaw PJ & Bendotti C (2013) Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis. Brain, 136(11), 3305-3332.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) Use of non-invasive ventilation at end of life. Palliative Medicine, 27(9), 878-878.
Hickman SJ, Allen JA, Baisre A, Batty R, Lari HB, Melen O, Pepper IM, Sarrigiannis PG, Turbin RE, Wharton SB & McDermott CJ (2013) Neuro-ophthalmological Complications of Chronic Inflammatory Demyelinating Polyradiculoneuropathy. Neuro-Ophthalmology, 37(4), 146-156.
Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T , Revesz T et al (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study. Neurology, 81(9), 808-811.
Kirby J, Highley JR, Cox L, Goodall EF, Hewitt C, Hartley JA, Hollinger HC, Fox M, Ince PG, McDermott CJ & Shaw PJ (2013) Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. Neuropathology and Applied Neurobiology, 39(5), 562-571. View this article in WRRO
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E , Bashir R et al (2013) ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation, 34(8), 1111-1118.
Gibbons C, Thornton E, Ealing J, Shaw P, Talbot K, Tennant A & Young C (2013) The impact of fatigue and psychosocial variables on quality of life for patients with motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(7-8), 537-545.
Mead RJ, Higginbottom A, Allen SP, Kirby J, Bennett E, Barber SC, Heath PR, Coluccia A, Patel N, Gardner I , Brancale A et al (2013) S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis. Free Radical Biology and Medicine, 61, 438-452.
Jenkins TM, Burness C, Connolly DJ, Rao DG, Hoggard N, Mawson S, McDermott CJ, Wilkinson ID & Shaw PJ (2013) A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(5-6), 414-423. View this article in WRRO
Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL , Rutkove SB et al (2013) Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(sup1), 19-32. View this article in WRRO
Groen EJN, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DMA, Koppers M, van Diggelen F, van Heest J, Demmers JAA , Kirby J et al (2013) ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Human Molecular Genetics, 22(18), 3690-3704.
Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J, Ellis CM, Gorrie G , Hanemann CO et al (2013) Management of sialorrhoea in motor neuron disease: A survey of current UK practice. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(7-8), 521-527.
Mok K, Laaksovirta H, Tienari PJ, Peuralinna T, Myllykangas L, Chiò A, Traynor BJ, Nalls MA, Gurunlian N, Shatunov A , Restagno G et al (2013) Homozygosity analysis in amyotrophic lateral sclerosis. European Journal of Human Genetics, 21(12), 1429-1435.
Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N & Shaw PJ (2013) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Molecular Neurodegeneration, 8(1), 12-12. View this article in WRRO
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The use of non-invasive ventilation at end of life in patients with motor neurone disease: A qualitative exploration of family carer and health professional experiences. Palliative Medicine, 27(6), 516-523. View this article in WRRO
Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H , Nicholson G et al (2013) Controversies and priorities in amyotrophic lateral sclerosis. LANCET NEUROLOGY, 12(3), 310-322. View this article in WRRO
Hewamadduma CAA, Grierson AJ, Ma TP, Pan L, Moens CB, Ingham PW, Ramesh T & Shaw PJ (2013) Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish. Human Molecular Genetics, 22(12), 2376-2386. View this article in WRRO
Lo C, Cooper-Knock J, Garrard K, Martindale J, Williams T & Shaw P (2013) Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(5-6), 473-475.
Nanou A, Higginbottom A, Valori CF, Wyles M, Ning K, Shaw P & Azzouz M (2013) Viral Delivery of Antioxidant Genes as a Therapeutic Strategy in Experimental Models of Amyotrophic Lateral Sclerosis. Molecular Therapy, 21(8), 1486-1496. View this article in WRRO
Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O , McGuffin P et al (2013) Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Neurobiology of Aging, 34(9), 2234.e1-2234.e7.
(2013) Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial. The Lancet Neurology, 12(4), 339-345.
van Rheenen W, Diekstra FP, van Doormaal PTC, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PWJ , van Damme P et al (2013) H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiology of Aging, 34(5), 1517.e5-1517.e7.
McGown A, McDearmid JR, Panagiotaki N, Tong H, Al Mashhadi S, Redhead N, Lyon AN, Beattie CE, Shaw PJ & Ramesh TM (2013) Early interneuron dysfunction in ALS: Insights from a mutant sod1 zebrafish model. Annals of Neurology, 73(2), 246-258. View this article in WRRO
Brockington A, Ning K, Heath PR, Wood E, Kirby J, Fusi N, Lawrence N, Wharton SB, Ince PG & Shaw PJ (2013) Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity. Acta Neuropathologica, 125(1), 95-109. View this article in WRRO
Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ , Price S et al (2013) Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72. Journal of Neurology, Neurosurgery & Psychiatry, 84(1), 79-87.
Stavroulakis T, Walsh T, Shaw PJ & McDermott CJ (2013) Gastrostomy use in motor neurone disease (MND): A review, meta-analysis and survey of current practice. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(2), 96-104.
Baxter SK, Baird WO, Thompson S, Bianchi SM, Walters SJ, Lee E, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2013) The initiation of non-invasive ventilation for patients with motor neuron disease: Patient and carer perceptions of obstacles and outcomes. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(2), 105-110.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM , Jones A et al (2013) The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder. European Journal of Human Genetics, 21(1), 102-108.
Aridegbe T, Kandler R, Walters SJ, Walsh T, Shaw PJ & McDermott CJ (2013) The natural history of motor neuron disease: Assessing the impact of specialist care. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14(1), 13-19.
Wang L, Chierico L, Little D, Patikarnmonthon N, Yang Z, Azzouz M, Madsen J, Armes SP & Battaglia G (2012) Encapsulation of Biomacromolecules within Polymersomes by Electroporation. Angewandte Chemie International Edition, 51(44), 11122-11125.
McDermott CJ, Maguire C, Cooper CL, Ackroyd R, Baird WO, Baudouin S, Bentley A, Bianchi S, Bourke S, Bradburn MJ , Dixon S et al (2012) Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial. BMC Neurology, 12(1). View this article in WRRO
Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M & Shaw PJ (2012) Gene expression profiling in human neurodegenerative disease. Nature Reviews Neurology, 8(9), 518-530.
Rafiq MK, Bradburn M, Proctor AR, Billings C, Bianchi S, McDermott CJ & Shaw PJ (2012) Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: A validation study. Amyotrophic Lateral Sclerosis, 13(6), 528-532.
Ismail A, Ning K, Al-Hayani A, Sharrack B & Azzouz M (2012) PTEN: A molecular target for neurodegenerative disorders. Translational Neuroscience, 3(2).
Rafiq MK, Proctor AR, McDermott CJ & Shaw PJ (2012) Respiratory management of motor neurone disease: a review of current practice and new developments. Practical Neurology, 12(3), 166-176.
(2012) Erratum. Amyotrophic Lateral Sclerosis, 13(3), 331-331.
Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J , van Swieten JC et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology, 11(4), 323-330.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J , van Swieten JC et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology.
Bourke SC, O'Neill CL, Williams TL, Peel ET, Gibson GJ, McDermott CJ & Shaw PJ (2012) The changing landscape of non-invasive ventilation in amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, 83(4), 368-369.
Hughes P, Seymour L, Hollinger H, Evans J, McDermott C & Shaw P (2012) Complementary therapies for people with motor neurone disease: extending a cancer care service. BMJ Supportive & Palliative Care, 2(Suppl 1), A102.3-A103.
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C , Baxter L et al (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain, 135(3), 751-764.
Harwood CA, McDermott CJ & Shaw PJ (2012) Clinical aspects of motor neurone disease. Medicine, 40(10), 540-545.
Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF , Boxer AL et al (2012) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging, 33(1), 209.e3-209.e8.
O'Neill CL, Williams TL, Peel ET, McDermott CJ, Shaw PJ, Gibson GJ & Bourke SC (2012) Non-invasive ventilation in motor neuron disease: an update of current UK practice. Journal of Neurology, Neurosurgery & Psychiatry, 83(4), 371-376.
Gibbons CJ, Mills RJ, Thornton EW, Ealing J, Mitchell JD, Shaw PJ, Talbot K, Tennant A & Young CA (2011) Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND). Health and Quality of Life Outcomes, 9(1). View this article in WRRO
Ince PG, Highley JR, Kirby J, Wharton SB, Takahashi H, Strong MJ & Shaw PJ (2011) Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology. Acta Neuropathologica, 122(6), 657-671.
Viggars AP, Wharton SB, Simpson JE, Matthews FE, Brayne C, Savva GM, Garwood C, Drew D, Shaw PJ & Ince PG (2011) Alterations in the blood brain barrier in ageing cerebral cortex in relationship to Alzheimer-type pathology: A study in the MRC-CFAS population neuropathology cohort. Neuroscience Letters, 505(1), 25-30.
Viggars AP, Wharton SB, Simpson JE, Matthews FE, Brayne C, Savva GM, Garwood C, Drew D, Shaw PJ & Ince PG (2011) Alterations in the blood brain barrier in ageing cerebral cortex in relationship to Alzheimer-type pathology: A study in the MRC-CFAS population neuropathology cohort. Neuroscience Letters.
Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M & Shaw PJ (2011) Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis.. Nat Rev Neurol, 7(11), 616-630.
Ismail A, Sharrack B, Constantinescu C, McDermott C & Shaw P (2011) Multiple sclerosis and amyotrophic lateral sclerosis - what is the link? A case series of six patients. MULTIPLE SCLEROSIS JOURNAL, 17, S472-S472.
Ning K, Drepper C, Valori CF, Wyles M, Ismail A, Higginbottom A, Herrmann T, Shaw PJ, Sendtner M & Azzouz M (2011) PTEN signalling in motor neuron disease (ALS & SMA). HUMAN GENE THERAPY, 22(10), A64-A64.
Nanou A, Higginbottom A, Wyles M, Ning K, Shaw P & Azzouz M (2011) Gene therapy approaches to evaluate neuroprotection in experimental models of Amyotrophic Lateral Sclerosis. HUMAN GENE THERAPY, 22(10), A64-A64.
Simpson JE, Ince PG, Shaw PJ, Heath PR, Raman R, Garwood CJ, Gelsthorpe C, Baxter L, Forster G, Matthews FE , Brayne C et al (2011) Microarray analysis of the astrocyte transcriptome in the aging brain: relationship to Alzheimer's pathology and APOE genotype. Neurobiology of Aging, 32(10), 1795-1807.
Sargsyan SA, Blackburn DJ, Barber SC, Grosskreutz J, De Vos KJ, Monk PN & Shaw PJ (2011) A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function. BMC Neuroscience, 12(1). View this article in WRRO
Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF , Boxer AL et al (2011) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging.
Rafiq M, Sharrack N, Shaw PJ & Hadjivassiliou M (2011) A neurological rarity not to be missed: cerebrotendinous xanthomatosis. Practical Neurology, 11(5), 296-300.
Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2011) Dysregulation of astrocyte–motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain, 134(9), 2627-2641.
Mead RJ, Bennett EJ, Kennerley AJ, Sharp P, Sunyach C, Kasher P, Berwick J, Pettmann B, Battaglia G, Azzouz M , Grierson A et al (2011) Optimised and Rapid Pre-clinical Screening in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis (ALS). PLoS ONE, 6(8). View this article in WRRO
O'Neill CL, Williams TL, Peel ET, McDermott CJ, Shaw PJ, John G & Bourke SC (2011) Non-invasive ventilation in motor neuron disease: An update of current UK practice. Journal of Neurology, Neurosurgery and Psychiatry.
Simpson J, Ince P, Heath P, Raman R, Garwood C, Shaw P, Gelstorpe C, Baxter L, Forster G, Fiona M , Savva G et al (2011) P3‐156: Microarray analysis of the astrocyte transcriptome in the aging brain: Relationship to Alzheimer's pathology and APOE genotype. Alzheimer's & Dementia, 7(4S_Part_16).
Duffy LM, Chapman AL, Shaw PJ & Grierson AJ (2011) Review: The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis. Neuropathology and Applied Neurobiology, 37(4), 336-352.
Cooper-Knock J, Ahmedzai SH & Shaw P (2011) The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis, 12(6), 464-465.
Barber SC, Wood-Allum CA, Sargsyan SA, Walsh T, Cox LE, Monk PN & Shaw PJ (2011) Contrasting effects of cerebrospinal fluid from motor neuron disease patients on the survival of primary motor neurons cultured with or without glia. Amyotrophic Lateral Sclerosis, 12(4), 257-263.
Kirby J, Ning K, Ferraiuolo L, Heath PR, Ismail A, Kuo S-W, Valori CF, Cox L, Sharrack B, Wharton SB , Ince PG et al (2011) Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis. Brain, 134(2), 506-517. View this article in WRRO
Shaw PJ, Otto M, Bowser R, Turner M, Berry J, Brettschneider J, Connor J, Costa J, Cudkowicz M & Glass J (2011) Roadmap and Standard Operating Procedures for Biobanking and Discovery of Neurochemical Markers in ALS. Amyotrophic Lateral Sclerosis.
Al-Chalabi A, Shaw PJ, Young CA, Morrison KE, Murphy C, Thornhill M, Kelly J, Steen IN & Leigh PN (2011) Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31].. BMC Neurology, 11. View this article in WRRO
Shaw PJ, Gibbons CJ, Mills RJ, Thornton EW, Ealing J, Mitchell JD, Talbot K, Tennant A & Young CA (2011) Rasch Analysis of the Hospital Anxiety and Depression Scale (HADS) for Use in Motor Neurone Disease (MND). Health and Quality of Life Outcomes. View this article in WRRO

Chapters

Shaw PJ & Kirby J (2024) Preface, International Review of Neurobiology (pp. xix-xx). Elsevier
Verber N & Shaw PJ (2021) Thyroid Disease and the Nervous System, Aminoff's Neurology and General Medicine (pp. 285-302). Elsevier
Chandran JS, Scarrott JM, Shaw P & Azzouz M (2017) Gene Therapy in the Nervous System: Failures and Successes In El-Khamisy S (Ed.), Personalised Medicine Lessons from Neurodegeneration to Cancer Springer
Allen C, Shaw PJ & Ferraiuolo L (2017) Can Astrocytes Be a Target for Precision Medicine? In El-Khamisy (Ed.), Personalised Medicine View this article in WRRO
Chandran JS, Scarrott JM, Shaw PJ & Azzouz M (2017) Gene Therapy in the Nervous System: Failures and Successes, Advances in Experimental Medicine and Biology (pp. 241-257). Springer International Publishing View this article in WRRO
Hardiman O, Kelly JA, Bak TH, Elamin M, Mihaila DL, Shaw PJ, Mitsumoto H & Shefner JM (2016) Clinical Trials in Neurodegeneration, Neurodegenerative Disorders (pp. 289-303). Springer International Publishing
Abrams GM, Albers GW, Alix JJP, Aminoff MJ, Bharucha AE, Batla A, Benson CM, Betjemann JP, Brosch JR, Camilleri M , Chen R et al (2014) Contributors, Aminoff's Neurology and General Medicine (pp. vii-xii). Elsevier
Abrams CS, Accurso FJ, Afdhal NH, Akin C, Aksamit AJ, Al-Awqati Q, Allos BM, Altshuler D, Aminoff MJ, Anderson JL , Anderson KE et al (2012) Contributors, Goldman's Cecil Medicine (pp. ix-xxx). Elsevier
Shaw PJ (2012) Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases, Goldman's Cecil Medicine (pp. 2343-2347). Elsevier
Shaw PA & Bryant RG (2011) Pans, Playas and Salt Lakes (pp. 373-401). Wiley
Shaw PJ, Cooper-Knock J, Bury JJ, Ferraiuolo L, Goodall EF & Kirby J (2011) Gene Expression Profiling and its Application in Amyotrophic Lateral Sclerosis InTech Open Access
Shaw PJ & Wood-Allum C (2011) The Neurology of Thyroid Disease In Aminoff M (Ed.), Neurology of Systemic Disease

Conference proceedings papers

Hartopp N, Thoma A, Mossman E, Ellis L, Hughes R, Bhosale G, Gandini A, Pristera A, Doe C, Allen S , Ferraiuolo L et al (2024) I026 Screening for mitochondrial therapeutics in Huntington’s disease using patient-derived cells. I: Experimental therapeutics – preclinical (pp A152.1-A152)
Ryan C, Shaw P & Shorey P (2023) P120 A case of syphilitic amyotrophic lateral sclerosis (ALS)?. Posters
Miller TM, Cudkowicz M, Genge A, Shaw PJ, Sobue G, Fanning L, Gambino G, Garafalo S, Nestorov I, Graham D , Inra J et al (2023) Two-Year Results from the Open-Label Extension of VALOR: Tofersen in Adults with SOD1-ALS. MUSCLE & NERVE, Vol. 68 (pp S1-S2)
Milanese M, Provenzano F, Balbi M, Giunti D, Nyberg S, Parodi B, Bacchetti F, Torazza C, Bonifacino T, Usai C , de Rosbo NK et al (2023) In-vitro and in-vivo evidence supporting the therapeutic effect of extracellular vesicles derived from mesenchymal stem cells in amyotrophic lateral sclerosis. GLIA, Vol. 71 (pp E280-E281)
Bell S, De Marco M, Barnes K, Shaw P, Ferraiuolo L, Blackburn D, Mortiboys H & Venneri A (2020) Do deficits in Mitochondrial Spare Respiratory Capacity contribute to Neuropsychological changes seen in Alzheimer's disease?. NEUROLOGY, Vol. 94(15) View this article in WRRO
Allen SP, Hall B, Castelli L, Francis L, Woof R, Higginbottom A, Myszczynska M, Allen CF, Stopford MJ, Webster CP , De Vos K et al (2018) Inosine reverses motor neuron toxicity observed in amyotrophic lateral sclerosis patient astrocytes with an adenosine deaminase deficiency. Biochimica et Biophysica Acta (BBA) - Bioenergetics, Vol. 1859 (pp e23-e23)
Hewamadduma CA, Omalley R, Robinson M, Beauchamp N, Rogers T, Martindale J, Mcdermott C, Shaw P, Hoggard N & Hadjivassiliou M (2017) Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening. Journal of the Neurological Sciences, Vol. 381 (pp 304-305) View this article in WRRO
Jenkins T, Alix J, Rao G, Hoggard N, O'Brien E, Baster K, Bradburn M, Bigley J, McDermott C, Wilkinson I & Shaw P (2017) Imaging denervation in motor neuron disease for future clinical trials: a longitudinal cohort study. Journal of the Neurological Sciences, Vol. 381 (pp 102-102) View this article in WRRO
(2016) Nottingham Pathology 2016. 9th Joint Meeting of the British Division of the International Academy of Pathology and the Pathological Society of Great Britain & Ireland, 28 June - 1 July 2016. The Journal of Pathology, Vol. 240 (pp S1-S48) View this article in WRRO
Iannitti T, Scarrot JM, Coldicott IRP, Kaspar BK, Ferraiuolo L, Shaw PJ & Azzouz M (2016) Gene Therapy for Familial ALS Using AAV9 Mediated Silencing of Mutant SOD1. HUMAN GENE THERAPY, Vol. 27(7) (pp A12-A12) View this article in WRRO
Herranz-Martin S, Lewis KE, Coldicott I, Chandran JS, Lukashchuk V, Iannitti T, Shaw PJ & Azzouz M (2016) Experimental modelling of ALS by AAV-mediated in vivo modulation of the C9ORF72 gene. HUMAN GENE THERAPY, Vol. 27(7) (pp A16-A16)
Lorente-Pons A, Wood JD, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J & Highley JR (2016) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 42(S1) (pp 28-28), 2 March 2016 - 4 March 2016. View this article in WRRO
Rafiq M, Proctor A, McDermott C & Shaw P (2015) SCREENING FOR RESPIRATORY FAILURE IN ALS USING CLINICAL QUESTIONING, RESPIRATORY FUNCTION TESTS AND TRANSCUTANEOUS CARBON DIOXIDE: WHICH IS THE BETTER TOOL?. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 86(11) (pp e4.54-e4) View this article in WRRO
Hewamadduma C, Grierson A, Higginbottom A & Shaw P (2015) Fibroblasts from patients with amyotrophic lateral sclerosis (ALS) associated with mutations in tardbp gene as model of TDP-43 proteinopathy. Journal of the Neurological Sciences, Vol. 357 (pp e49-e49)
Rafiq M, Lee E, Bradburn M, McDermott C & Shaw P (2015) Elevated creatine kinase is associated with a better prognosis in patients with amyotrophic lateral sclerosis. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 741-741) View this article in WRRO
Rafiq M, Bradburn M, McDermott C & Shaw P (2015) Effects of cough augmentation on pulmonary morbidity, survival, and quality of life in patients with amyotrophic lateral sclerosis in respiratory failure: a randomised trial. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 22 (pp 244-244)
Lorente-Pons A, Wood JD, Shaw PJ, Ince PG, Cooper-Knock J, Ramachandran A, Kirby J & Highley JR (2015) Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 41 (pp 26-27)
Beer A, Cooper-Knock J, Higginbottom A, Robin Highley J, Wharton SP, Milano A, Jones A, Al-Chalabi A, Kirby J & Shaw PJ (2014) AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH AN INTERMEDIATE LENGTH GGGGCC REPEAT EXPANSION HAS DISTINCT NEUROPATHOLOGY COMPARED TO PATIENTS WITH LARGER EXPANSIONS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.130-e4)
Rafiq MK, Bradburn M, Proctor A, Billings C, Bianchi S, McDermott C & Shaw P (2014) ROLE OF COUGH AUGMENTATION IN AMYOTROPHIC LATERAL SCLEROSIS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 85(10) (pp e4.93-e4)
Simpson JE, Ince PG, Matthews F, Shaw PJ, Heath PR, Brayne C, Garwood C, Abdalla H, Higginbottom A & Wharton SB (2014) A neuronal DNA damage response is detected at low Braak stages and correlates with cognitive impairment in the ageing brain. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 40 (pp 31-32)
Rafiq M, Lee E, Bradburn M, McDermott C & Shaw P (2013) ELEVATED CREATINE KINASE SUGGESTS BETTER PROGNOSIS IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 84(11) (pp e2.135-e2)
Binny C, Karyka E, Ning K, Bennett E, Ince P, Shaw P & Azzouz M (2013) Efficient scAAV9-mediated delivery of SMN to motor neurons in neonatal and juvenile mice. HUMAN GENE THERAPY, Vol. 24(5) (pp A38-A38)
Little D, Valori C, Wyles M, Shaw P, Azzouz M & Ning K (2013) Systemic delivery of scAAV9 expressing PTEN siRNA prolongs survival in a model of spinal muscular atrophy. HUMAN GENE THERAPY, Vol. 24(5) (pp A27-A27)
Highley JR, Cooper-Knock J, Frolov A, Charlesworth G, Kirby J, Wharton SB, Ince PG, Shaw PJ, Wood N & Bandman O (2013) A pathological basis for the association of parkinsonism and amyotrophic lateral sclerosis. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 39 (pp 51-51)
Cooper-Knock J, Highley JR, Hartley J, Milano A, Sawcer S, Compston A, Frolov A, Charlesworth G, Wood N, Bandmann O , McDermott CJ et al (2013) Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease. The Lancet, Vol. 381 (pp S32-S32)
Woollacott I, Shatunov A, Jones A, Morrison KE, Leigh PN, Shaw PJ, Shaw CE & Al-Chalabi A (2013) Trimodal pattern of C9ORF72 GGGGCC normal allele repeat number in sporadic amyotrophic lateral sclerosis and lack of association with disease risk and age at onset. The Lancet, Vol. 381 (pp S116-S116)
Rafiq M, Proctor AR, McDermott CJ & Shaw P (2012) CLINICAL EVALUATION OF TRANSCUTANEOUS CARBON DIOXIDE MONITOR (TOSCA) IN PATIENTS WITH MOTOR NEURONE DISEASE. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(Suppl 2) (pp A32.3-A33)
Al-Chalabi A, Shaw P, Kelly J, Morrison K, Murphy C, Thornhill M, Steen N & Leigh PN (2012) LITHIUM CARBONATE IS NOT BENEFICIAL FOR PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS: RESULTS OF THE LICALS TRIAL [EUDRACT NUMBER: 2008-006891-31]. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(Suppl 2) (pp A31.3-A31)
Gibbons CJ, Cousins R, Pomeroy IM, Ando H, Al-Chalabi A, Chataway J, Constaninescu C, Ealing J, Hawkins C, Morrison K , Palace J et al (2012) Work in progress: quality of life (QoL) and neurological disease - trajectories of outcome in neurological conditions (TONiC): a study protocol. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 19 (pp 264-264)
Hewamadduma C, Grierson A, Moens C, Pan L, Ma T, Ingham P, Ramesh T & Shaw P (2012) A novel alternative splicing event rescues the mutant tardbp phenotype in a zebrafish model of TDP-43 related Amyotrophic Lateral Sclerosis (ALS) (P03.180). Neurology, Vol. 78(Meeting Abstracts 1) (pp P03.180-P03.180)
Hewamadduma C, Grierson A, Moens C, Pan L, Ma T, Ingham P, Ramesh T & Shaw P (2012) A novel alternative splicing event rescues the mutant tardbp phenotype in a zebrafish model of TDP-43 related Amyotrophic Lateral Sclerosis (ALS) (IN9-2.001). Neurology, Vol. 78(Meeting Abstracts 1)
Hewamadduma C, Higgenbottom CAA, Moens C, Helde K, Raman R, Tennore R, Grierson A & Shaw PJ (2012) 160 Novel in vitro and in vivo models of ALS associated with TDP-43 proteinopathy. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.116-e1)
Aridegbe T, Kandler R, Walsh T, Shaw PJ & McDermott CJ (2012) 154 The natural history of motor neurone disease (MND): assessing the impact of specialist care. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.108-e1)
Brockington A, Ning K, Heath P, Wood E, Malik K, Fusi N, Wharton S, Ince PG & Shaw PJ (2012) 156 Motor neurones subtypes resistant to degeneration in amyotrophic lateral sclerosis show distinct synaptic characteristics across species. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.110-e1)
Rajan S, Shaw P & Wood-Allum C (2012) 079 Defective regeneration of oxidatively-inactivated 2-cys peroxiredoxins in SOD1-related Amyotrophic Lateral Sclerosis. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.26-e1)
Ramesh T, McGown A, Al Mashhadi S, Redhead N, Lyon A, Bettie CE & Shaw PJ (2012) 166 The heat is “ON” in the Neurons: neuronal stress in a sod1 Zebrafish model of MND affects neuromuscular junction integrity and causes muscle denervation. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.122-e1)
Ferraiuolo L, Higginbottom A, Heath PR, Barber S, Greenald D, Kirby J & Shaw PJ (2012) 159 Dysregulation of the cross-talk with astrocytes as a contributory factor to motor neuron injury in motor neuron disease. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.115-e1)
McDermott C, Proctor A, Walsh T, Ackroyd R, Rao G, Bianchi S, Englert L, Rafiq MK & Shaw PJ (2012) 164 Experience of the use of diaphragm pacing in patients with respiratory impairment due to motor neurone disorders. Journal of Neurology, Neurosurgery & Psychiatry, Vol. 83(3) (pp e1.120-e1)
Smith BN, Topp S, Barwell J, Al-Chalabi A, Kirby J, Shaw PJ, Paul H, Morrison KE, de Jong V, Baas F , Lewis CM et al (2012) Age-dependent penetrance and anticipation in ALS+/-FTLD kindreds due to C9ORF72 hexanucleotide intronic repeat expansion mutations (C9HIREM). DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, Vol. 33 (pp 282-282)
Smith BN, Topp S, Barwell J, Al-Chalabi A, Kirby J, Shaw PJ, Paul H, Morrison KE, de Jong V, Baas F , Lewis CM et al (2012) Age-dependent penetrance and anticipation in ALS+/-FTLD kindreds due to C9ORF72 hexanucleotide intronic repeat expansion mutations (C9HIREM). DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, Vol. 33 (pp 36-37)
Baxter SK, Baird WO, Thompson S, Bianchi S, Walters S, Ahmedzai SH, Proctor A, Shaw PJ & McDermott CJ (2012) The Use of Non-Invasive Ventilation for Patients with Motor Neurone Disease: Patient and Carer Perceptions of Obstacles and Outcomes. ANNALS OF NEUROLOGY, Vol. 72 (pp S73-S74)
Simpson JE, Ince PG, Shaw PJ, Heath PR, Raman R, Garwood CJ, Gelsthorpe C, Baxter L, Forster G, Matthews FE , Brayne C et al (2011) Microarray analysis of the astrocyte transcriptome in the aging brain: relationship to Alzheimer's pathology and APOE genotype. Neurobiology of Aging
Bunting E, Wood-Allum C, Barber S & Shaw P (2011) Congruent handedness and side of onset in ALS-evidence in favour of the exercise hypothesis?. JOURNAL OF NEUROLOGY, Vol. 258 (pp 57-57)
Eckmann J, Eckert SH, Leuner K, Bordet T, Pruss R, Grierson A, Shaw P, Clemens L, Nguyen HP, Mueller WE & Eckert GP (2011) Impact of Olesoxime on disease related mitochondrial membrane properties in mouse models of neurodegenerative diseases. NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY, Vol. 383 (pp 51-51)
Simpson JE, Ince PG, Heath PR, Raman R, Shaw PJ, Gelsthorpe C, Baxter L, Forster G, Matthews F, Savva G , Brayne C et al (2011) Microarray analysis of the astrocyte transcriptome in the ageing brain: relationship to Alzheimer's pathology and ApoE genotype. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 37 (pp 33-33)
Highley R, Kirby J, Jansweijer JA, Heath PR, Shaw PJ & Ince PG (2011) TARDBP mutations, amyotrophic lateral sclerosis and alternative splicing. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, Vol. 37 (pp 20-20)

Other

McDermott CJ & Bradburn MJ (2016) Diaphragm pacing in patients with amyotrophic lateral sclerosis – Authors' reply. The Lancet Neurology, 15(6), 543-544.

Preprints

Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B , Vural A et al (2024) Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis, Cold Spring Harbor Laboratory.
Weinreich M, McDonough H, Yacovzada N, Magen I, Cohen Y, Harvey C, Gornall S, Boddy S, Alix J, Mohseni N , Kurz JM et al (2024) predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases, Cold Spring Harbor Laboratory.
Pham TK, Verber N, Turner MR, Malaspina A, Collins MO, Mead RJ & Shaw PJ (2024) Glutathione Oxidation in Cerebrospinal Fluid as a Biomarker of Oxidative Stress in Amyotrophic Lateral Sclerosis, Cold Spring Harbor Laboratory.
McKinnon S, Qiang Z, Keerie A, Wells T, Shaw PJ, Alix JJP & Mead RJ (2024) Maximising the translational potential of neurophysiology in amyotrophic lateral sclerosis: a study on compound muscle action potentials, Cold Spring Harbor Laboratory.
Zhang S, Moll T, Rubin-Sigler J, Tu S, Li S, Yuan E, Liu M, Butt A, Harvey C, Gornall S , Alhalthli E et al (2024) Deep learning modeling of rare noncoding genetic variants in human motor neurons definesCCDC146as a therapeutic target for ALS, Cold Spring Harbor Laboratory.
Iacoangeli A, Dilliott AA, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V , Glass JD et al (2024) The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications, Cold Spring Harbor Laboratory.
Lin Y-H, Dodd JE, Cutillo L, Castelli LM, Mihaylov SR, Norris K, Higginbottom A, Walsh MJ, Cooper-Knock J, Highley JR , Granata I et al (2024) GRASPS: a simple-to-operate translatome technology reveals omics-hidden disease-associated pathways in TDP-43-related amyotrophic lateral sclerosis, Cold Spring Harbor Laboratory.
Burrows DJ, McGown A, Abduljabbar O, Castelli LM, Shaw PJ, Hautbergue GM & Ramesh TM (2024) RAN translation of C9ORF72-related dipeptide repeat proteins recapitulates hallmarks of motor neurone disease and identifies hypothermia as a therapeutic strategy in zebrafish, Cold Spring Harbor Laboratory.
Michael B, Wood G, Sargent B, Ahmad Z-U-A, Tharmaratnam K, Dunai C, Egbe F, Martin N, Facer B, Pendered S , Rogers H et al (2024) Post-COVID cognitive deficits at one year are global and associated with elevated brain injury markers and grey matter volume reduction: national prospective study, Research Square Platform LLC.
Kalia M, Spargo TP, Al Khleifat A, Opie-Martin S, Kabiljo R, Dobson RJB, van Damme P, Corcia P, Couratier P, Hardiman O , McLaughlin R et al (2023) Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts, Cold Spring Harbor Laboratory.
Spargo TP, Marriott H, Hunt GP, Pain O, Kabiljo R, Bowles H, Sproviero W, Gillett AC, Fogh I, Andersen PM , Başak NA et al (2023) Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms, Cold Spring Harbor Laboratory.
Bell SM, Wareing H, Hamshaw A, De S, New E, Shaw PJ, De Marco M, Venneri A, Blackburn DJ, Ferraiuolo L & Mortiboys H (2023) Deficits in mitochondrial function and glucose metabolism seen in sporadic and familial Alzheimer’s disease derived Astrocytes are ameliorated by increasing hexokinase 1 expression, Cold Spring Harbor Laboratory.
Kalia M, Miotto M, Ness D, Opie-Martin S, Spargo TP, Di Rienzo L, Biagini T, Petrizzelli F, Al-Khleifat A, Kabiljo R , Topp S et al (2022) Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression, Cold Spring Harbor Laboratory.
Marriott H, Spargo TP, Khleifat AA, Fogh I, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M , Drory V et al (2022) Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis, Cold Spring Harbor Laboratory.
Adey BN, Cooper-Knock J, Khleifat AA, Fogh I, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M , Drory V et al (2022) Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival, Cold Spring Harbor Laboratory.
Byrne RP, van Rheenen W, van den Berg LH, Veldink JH & McLaughlin RL (2020) Dutch population structure across space, time and GWAS design, Cold Spring Harbor Laboratory.

Research group

Adrian Higginbottom
Laura Evans
Aytac Gul
Ilaria Giovanelli
Simon Bell
Anushka Bharkava
Marco Destro
Ana Aragon Gonzalez
Allan Shaw
Tobi Moll
Calum Harvey
Selina Beal
Kriti Gupta
Kayal Mujthukrishnan
Deborati Bhattachryya
Ekene Anakor
Thomas Marlow
Raquel Rua Martins
Aoife Kernan
Laura Chapman

SITraN PI Scientific Collaborators

Laura Ferraiuolo
Robin Highley
Richard Mead
Janine Kirby
Scott Allen
Guillaume Hautbergue
Mimoun Azzouz
Johnathan Cooper-Knock
James Alix
Tennore Ramesh
Ryan West
Kurt de Vos
Christopher McDermott

Current Clinical Research Team

Mbombe Kazoka
Lee Tuddenham
Madalina Roman
Mary Sikaonga
James Alix
Stacy Young
Johnathan Cooper-Knock
Calum Harvey
Daniel Madarshahian
Aoife Kernan

Grants

Principal Funding Sources

The Motor Neurone Disease Association
The Medical Research Council
LifeArc
NIHR
My Name’5 Doddie Foundation
European Union
Pharmaceutical partners

Professional activities and memberships

Professor Shaw has served as a member of multiple national and international committees, and has been a research advisory panel member for the Wellcome Trust, MNDA, MRC, the Muscular Dystrophy Association, the Academy of Medical Sciences, the Academy of Science Finland, NIHR and reviews for multiple grant awarding bodies.

Current Membership of National and International Committees

Academy of Medical Sciences New Lectureship Panel Fellowship Panel 2020 - present.
Lister Institute Board of Governors 2018 – present
UKRI Future Leaders Fellowship Panel and College 2020- present
NIHR Senior fellowship panel 2021 – present

Postgraduate awards

2022 British Neuroscience Association Award for Outstanding Contribution to Neuroscience
2022 Award of the 2^nd Dr M Gourie Devi Oration, National Institute of Mental Health and Neuroscience, Bengaluru, India
2022 Oktoberfest Plenary Lecture, Ludwig-Maximilian University of Munich

2021 Singhal award Lecture XXV World Congress of Neurology, Rome.
2019 National Queen’s Anniversary Prize 2019 for excellence and innovation in Neuroscience awarded to the Sheffield Institute for Translational Neuroscience.
2019 European Academy of Neurology Moritz Romberg Lecture
2019 Association of British Neurologists 2019 Medallist
2018/19 The Physiological Society GL Brown Prize Lectures
2018 Science and Society Public Lecture University of Liverpool, June 2018.
2017 Honorary Doctor of Medicine, University of Sussex in recognition of major contribution to the field of Neurology.
2017 Kosterlitz Prize and Lecture, University of Aberdeen.
2017 Honorary Degree, University of Bradford for internationally recognized work in the field of Neurology and instrumental work in setting standards of excellence in the clinical care for patients.
2017 Honorary Doctor of Medicine, University of Sussex in recognition of major contribution to the field of Neurology.
2017 University of Sussex Brain Visiting Professorship
2017 Kosterlitz Lecture, University of Aberdeen.
2016 Croonian Lecture, UK Royal College of Physicians
2015 Osler Lecture, Association of Physicians of the United Kingdom and Ireland
2015 Elected Fellow of the American Association for the Advancement of Science for groundbreaking basic and translational research of relevance to the understanding and treatment of neurodegenerative diseases.
2014 Dame Commander of the Order of the British Empire (DBE) for services to Neuroscience
2014 Jacobson Visiting Professorship, University of Newcastle upon Tyne
2013 Alfred Meyer’s Memorial Award Lecture British Neuropathological Society
2013 NIHR Senior Investigator Award
2013 UK ACCEA Platinum Clinical Excellence Award
2012 Gary and Peggy Edwards Distinguished Visiting Professorship for ALS, Houston USA
2012 Elected President of the North of England Neurological Association
2012 Visiting Professorship, Association of Physicians (Kerala Chapter) India
2012 Elected to membership of the Medical Pilgrims
2007 The International ALS/MND Forbes Norris Award for excellence in research and compassion in clinical care
2007 Fellowship of the Academy of Medical Sciences
2007 Spinoza Visiting Professorship, University of Amsterdam
2006 Royal College of Physicians Jean Hunter Prize for research into nervous disorders
2004 Invited Fellowship of the American Neurological Association
2001 American Academy of Neurology and ALS Association Sheila Essey Award for outstanding research contribution in amyotrophic lateral sclerosis/ motor neurone disease
2000 Hong Kong Neurological Association Li Po Shan/ Dr Vincent Liu visiting Professorship
1997 Invited Fellowship of the American Academy of Neurology
1996 Renewal of Wellcome Senior Fellowship in Clinical Science
1995 British Medical Association Vera Down Award
1992 Poster Research prize at the Third International Symposium on ALS/MND
1991 Award of Wellcome Senior Fellowship in Clinical Science
1991 Association of British Neurologists Sir Charles Symonds Prize
1990 North of England Neurological Association Liversedge Research Prize
1985 Northern Regional Health Authority David Dickson Research Prize
1985 Association of Physicians UK Dewar Research Prize
1985 British Cardiac Society Young Investigator of the Year award

School of Medicine and Population Health