Nathan Smith

National Institutes of Health

Washington, DC 20551

United States

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Scholarly Papers (1)

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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), National Institutes of Health - Laboratory of Neurogenetics, National Institutes of Health (NIH) - Cell Biology and Gene Expression Section, 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 - Maurice Wohl Clinical Neuroscience Institute, King's College 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, 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
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Abstract:

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