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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia.
Afiliación
  • Johnson JO; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Miller DE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.
  • Li R; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle.
  • Kumaran R; Department of Pediatrics, Children's Hospital of Richmond at VCU, Richmond, Virginia.
  • Abramzon Y; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Alahmady N; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Renton AE; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Gibbs JR; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
  • Cookson MR; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Sabir MS; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Dalgard CL; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Troakes C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Jones AR; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Shatunov A; UK Dementia Research Institute at King's College London, London, United Kingdom.
  • Iacoangeli A; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.
  • Al Khleifat A; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Ticozzi N; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
  • Silani V; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
  • Gellera C; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
  • Blair IP; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Dobson-Stone C; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Kwok JB; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Bonkowski ES; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Palvadeau R; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Tienari PJ; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.
  • Morrison KE; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.
  • Shaw PJ; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.
  • Al-Chalabi A; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.
  • Brown RH; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy.
  • Calvo A; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia.
  • Mora G; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.
  • Al-Saif H; School of Medical Sciences, University of New South Wales, Kensington, Australia.
  • Gotkine M; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.
  • Leigh F; School of Medical Sciences, University of New South Wales, Kensington, Australia.
  • Chang IJ; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle.
  • Perlman SJ; Suna and Inan Kirac Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koc University, Istanbul, Turkey.
  • Glass I; Department of Neurology, Helsinki University Hospital and Translational Immunology Programme, Biomedicum, University of Helsinki, Helsinki, Finland.
  • Scott AI; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom.
  • Shaw CE; Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom.
  • Basak AN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Landers JE; Department of Neurology, King's College Hospital, London, United Kingdom.
  • Chiò A; Department of Neurology, University of Massachusetts Medical School, Worcester.
  • Crawford TO; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Smith BN; ALS Center, ICS Maugeri, IRCCS, Milan, Italy.
  • Traynor BJ; Department of Neurology, Children's Hospital of Richmond at VCU, Richmond, Virginia.
  • Smith BN; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle.
  • Ticozzi N; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.
  • Fallini C; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle.
JAMA Neurol ; 78(10): 1236-1248, 2021 10 01.
Article en En | MEDLINE | ID: mdl-34459874
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Serina C-Palmitoiltransferasa / Esclerosis Amiotrófica Lateral Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: JAMA Neurol Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Serina C-Palmitoiltransferasa / Esclerosis Amiotrófica Lateral Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: JAMA Neurol Año: 2021 Tipo del documento: Article