Chris Shaw

King’s College London - Maurice Wohl Clinical Neuroscience Institute

Strand

London, England WC2R 2LS

United Kingdom

SCHOLARLY PAPERS

3

DOWNLOADS

130

SSRN CITATIONS

4

CROSSREF CITATIONS

1

Scholarly Papers (3)

1.

Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis

Number of pages: 85 Posted: 06 Jun 2019
National Institutes of Health - Neuromuscular Diseases Research Section, National Institutes of Health - Neuromuscular Diseases Research Section, Government of the United States of America - National Institutes of Health (NIH), King’s College London - Maurice Wohl Clinical Neuroscience Institute, National Institutes of Health - Neuromuscular Diseases Research Section, National Institutes of Health - Molecular Genetics Section, National Institutes of Health - Neuromuscular Diseases Research Section, United Kingdom Dementia Research Institute Centre, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Computational Biology Core, National Institutes of Health - Computational Biology Core, National Institutes of Health, Government of the United States of America - National Institutes of Health (NIH), Government of the United States of America - Center for Alzheimer's and Related Dementias (CARD), Government of the United States of America - Center for Alzheimer's and Related Dementias (CARD), Johns Hopkins University - School of Medicine, Johns Hopkins University - Department of Pathology, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Neurodegenerative Diseases Research Unit, Uniformed Services University of the Health Sciences, United Kingdom Dementia Research Institute Centre, King’s College London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Department of Basic and Clinical Neuroscience, King’s College London - Department of Basic and Clinical Neuroscience, University of Milan - Department of Neurology and Laboratory of Neuroscience, University of Massachusetts Worcester - Department of Neurology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases, Macquarie University - Centre for MND Research, University of New South Wales (UNSW) - School of Medical Sciences (SoMS), University of New South Wales (UNSW) - School of Medical Sciences (SoMS), National Institutes of Health, Independent, Independent, Independent, Independent, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Southampton - Faculty of Medicine, Health and Life Sciences, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Massachusetts Worcester - Department of Neurology, ASO OIRM-S.Anna, University of Turin - Department of Neurosciences, Azienda Ospedaliera Universitaria Maggiore della Carità - ALS Center, Hebrew University of Jerusalem, King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, Johns Hopkins University - Department of Pediatrics, King’s College London - Maurice Wohl Clinical Neuroscience Institute and University of Massachusetts Worcester - Department of Neurology
Downloads 59 (655,697)
Citation 4

Abstract:

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amyotrophic lateral sclerosis, genomics, de novo mutation, sphingolipid metabolism, SPTLC1, serine nutritional supplementation, deoxymethyl-sphinganine, individualized medicine

2.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as a New ALS Risk Gene

Number of pages: 38 Posted: 11 Jun 2020
University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Stanford University - Stanford Center for Genomics and Personalized Medicine, University of Massachusetts Worcester - Department of Neurology, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Weizmann Institute of Science - Department of Molecular Genetics, Weizmann Institute of Science - Department of Molecular Genetics, Weizmann Institute of Science - Department of Molecular Genetics, Lund University - Department of Biology, University of Sheffield - Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield - Sheffield Institute for Nucleic Acids (SInFoNiA), Massachusetts General Hospital and Harvard Medical School - Analytic and Translational Genetics Unit, Weizmann Institute of Science - Department of Molecular Genetics, Weizmann Institute of Science - Department of Molecular Genetics, University of Southampton - Faculty of Medicine, Health and Life Sciences, King’s College London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Institute of Psychiatry, Psychology and Neuroscience, Independent, Utrecht University - Department of Neurology, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Stanford University - Stanford Center for Genomics and Personalized Medicine and University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN)
Downloads 39 (781,655)
Citation 2

Abstract:

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Amyotrophic lateral sclerosis, whole genome sequencing, CAV1, CAV2, noncoding DNA

3.

Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data

Number of pages: 59 Posted: 04 Apr 2024
Sara Saez-Atienzar, Cleide dos Santos Souza, Ruth Chia, Selina N. Beal, Ileana Lorenzini, Ruili Huang, Jennifer Levy, Camelia Burciu, Jinhui Ding, J. Raphael Gibbs, Ashley Jones, Ramita Dewan, Viviana Pensato, Silvia Peverelli, Lucia Corrado, Joke J.F.A. van Vugt, Wouter van Rheenen, Ceren Tunca, Elif Bayraktar, Menghang Xia, The International ALS Genomics Consortium, ITALSGEN Consortium, SLAGEN Consortium, Alfredo Iacoangeli, Aleksey Shatunov, Cinzia Tiloca, Nicola Ticozzi, Federico Verde, Letizia Mazzini, Kevin P. Kenna, Ahmad Al Khleifat, Sarah Opie-Martin, Flavia Raggi, Massimiliano Filosto, Stefano Cotti Piccinelli, Alessandro Padovani, Stella Gagliardi, Maurizio Inghilleri, Alessandra Ferlini, Rosario Vasta, Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurzio Grassano, Jessica Mandrioli, Gabriele Mora, Christian Lunetta, Raffaella Tanel, Francesca Trojsi, Patrizio Cardinali, Salvatore Gallone, Maura Brunetti, Daniela Galimberti, Maria Serpente, Chiara Fenoglio, Elio Scarpini, Giacomo Comi, Stefania Corti, Roberto Del Bo, Mauro Ceroni, Giuseppe Lauria Pinter, Franco Taroni, Eleonora Dalla Bella, Enrica Bersano, Charles J. Curtis, Sang Hyuck Lee, Raymond Chung, Hamel Patel, Karen E. Morrison, Johnathan Cooper-Knock, Pamela J. Shaw, Gerome Breen, Richard JB Dobson, Clifton L. Dalgard, The American Genome Center, Sonja Scholz, Ammar Al Chalabi, Leonard van den Berg, Russell McLaughlin, Orla Hardiman, Cristina Cereda, Gianni Soraru, Sandra D'Alfonso, Siddharthan Chandran, Suvankar Pal, Antonia Ratti, Cinzia Gellera, Kory Johnson, Tara Doucet-O'Hare, Nicholas Pasternack, Tongguang Wang, Avindra Nath, Gabriele Siciliano, Vincenzo Silani, Ayse Nazli Basak, Jan H. Veldink, William Camu, Jonathan D. Glass, John E. Landers, Adriano Chio, Rita Sattler, Chris Shaw, Laura Ferraiuolo, Isabella Fogh and Bryan J. Traynor
Government of the United States of America - Neuromuscular Diseases Research Section, University of Sheffield, Government of the United States of America - Neuromuscular Diseases Research Section, University of Sheffield, St. Joseph's Hospital and Medical Center - Barrow Neurological Institute, National Institutes of Health, St. Joseph's Hospital and Medical Center - Barrow Neurological Institute, St. Joseph's Hospital and Medical Center - Barrow Neurological Institute, Government of the United States of America - National Institute on Aging, National Institute on Aging (NIA) - Computational Biology Group, King’s College London, National Institute on Aging - Neuromuscular Diseases Research Section, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, University of Milan - IRCCS Istituto Auxologico Italiano, University of Eastern Piedmont, Utrecht University - University Medical Center (Utrecht), Utrecht University - Department of Neurology, Koc University, Koc University, National Institutes of Health, Government of the United States of America - National Institute on Aging, University of Turin, University of Milan, King’s College London - Department of Basic and Clinical Neuroscience, King’s College London, University of Milan - IRCCS Istituto Auxologico Italiano, University of Milan, University of Milan - IRCCS Istituto Auxologico Italiano, University of Piemonte Orientale, University Medical Center Utrecht - Department of Neurology, King’s College London - Department of Basic and Clinical Neuroscience, King’s College London, University of Padova, University of Brescia, University of Brescia, University of Brescia - Neurology Unit, IRCCS Mondino Foundation Pavia, Sapienza University of Rome, University of Ferrara, University of Turin, University of Turin, University of Turin, University of Turin, University of Turin, University of Turin, Università di Modena e Reggio Emilia, Istituti Clinici Scientifici Maugeri IRCCS, Istituti Clinici Scientifici Maugeri IRCCS, Agenzia Nazionale per i Servizi Sanitari Regionali - “S. Chiara” Hospital, University of Campania “Luigi Vanvitelli”, AV4 ASUR Marche, University of Turin, University of Turin, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Università degli Studi di Milano, Università degli Studi di Milano, University of Pavia, University of Milan, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, University of Nottingham - NIHR Biomedical Research Centre, University of Nottingham - NIHR Biomedical Research Centre, University of Nottingham - NIHR Biomedical Research Centre, University of Nottingham - NIHR Biomedical Research Centre, Queen’s University, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), King’s College London - Institute of Psychiatry, Psychology & Neuroscience (IoPPN), King’s College London - Department of Biostatistics & Health Informatics, Uniformed Services University of the Health Sciences - Department of Anatomy, Physiology and Genetics, Government of the United States of America - National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Neurological Disorders and Stroke - Neurodegenerative Diseases Research Unit, King’s College London - Department of Basic and Clinical Neuroscience, Utrecht University - Department of Neurology, Trinity College Dublin, Trinity College (Dublin) - Academic Unit of Neurology, University of Milan, University of Padova, University of Eastern Piedmont, UK-Dementia Research Institute at University College London, University of Edinburgh, University of Milan - IRCCS Istituto Auxologico Italiano, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, National Institute of Neurological Disorders and Stroke - DIR Bioinformatics Section, Government of the United States of America - National Cancer Institute, National Institutes of Health, Bethesda - National Institute of Mental Health, National Institutes of Health, Bethesda - National Institute of Mental Health, National Institutes of Health, Bethesda - National Institute of Mental Health, University of Pisa, University of Milan, Koc University, Utrecht University - Department of Neurology, University of Montpellier, Emory University - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, Government of the United States of America - National Institute on Aging, Government of the United States of America - National Institute on Aging, King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Government of the United States of America - National Institute on Aging and Government of the United States of America - Neuromuscular Diseases Research Section
Downloads 32 (844,102)

Abstract:

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C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, age at onset, drug repurposing, acamprosate.