Chris Shaw

University of London - Maurice Wohl Clinical Neuroscience Institute

Strand

London, England WC2R 2LS

United Kingdom

SCHOLARLY PAPERS

2

DOWNLOADS

48

SSRN CITATIONS

3

CROSSREF CITATIONS

0

Scholarly Papers (2)

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), University of 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), National Institutes of Health - Laboratory of Neurogenetics, Government of the United States of America - National Institutes of Health (NIH), 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, University of London - Maurice Wohl Clinical Neuroscience Institute, University of London - Maurice Wohl Clinical Neuroscience Institute, University of London - Maurice Wohl Clinical Neuroscience Institute, University of London - Maurice Wohl Clinical Neuroscience Institute, 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, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, 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), University of 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, University of 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, University of London - Maurice Wohl Clinical Neuroscience Institute and University of Massachusetts Worcester - Department of Neurology
Downloads 26 (540,510)
Citation 3

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, University of London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Institute of Psychiatry, Psychology and Neuroscience, affiliation not provided to SSRN, 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 22 (565,414)

Abstract:

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