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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D; Foley, A Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R; Pourshafie, Naemeh; Neuhaus, Sarah B; Saade, Dimah; Gangfuß, Andrea; Kölbel, Heike; Piccus, Zoe; Le Pichon, Claire E; Fiorillo, Chiara; Ly, Cindy V; Töpf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P; Chao, Katherine R; Konersman, Chamindra G; Cho, Megan T; Brandt, Tracy; Straub, Volker; Connolly, Anne M; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Höke, Ahmet; Brown, Robert H; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M; Bönnemann, Carsten G.
Afiliación
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Nalls M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Gable K; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA.
  • Gupta SD; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Saute JAM; Medical Genetics division and Neurology division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Graduate Program in Medicine: Medical Sciences, and Internal Medicine Department; Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Moreira AL; Neurology Department, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Kok F; Neurogenetics Outpatient Service, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil and Mendelics, São Paulo, Brazil.
  • Introna A; Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
  • Logroscino G; Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.
  • Grunseich C; Department of Clinical Research in Neurology, Center for Neurodegenerative Diseases and the Aging Brain, University of Bari at 'Pia Fondazione Card G. Panico' Hospital Tricase (Le), Bari, Italy.
  • Nickolls AR; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Pourshafie N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Neuhaus SB; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Gangfuß A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Kölbel H; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany.
  • Piccus Z; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany.
  • Le Pichon CE; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Fiorillo C; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Ly CV; Paediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa, Genoa, Italy.
  • Töpf A; Department of Neurology, Washington University in Saint Louis School of Medicine, Saint Louis, MO, USA.
  • Brady L; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Specht S; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
  • Zidell A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Pedro H; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, NJ, USA.
  • Mittelmann E; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA.
  • Thomas FP; Department of Neurology, Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA.
  • Chao KR; Department of Neurology, Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA.
  • Konersman CG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cho MT; Department of Neurosciences, University of California, San Diego, San Diego, CA, USA.
  • Brandt T; GeneDx, Gaithersburg, MD, USA.
  • Straub V; GeneDx, Gaithersburg, MD, USA.
  • Connolly AM; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Schara U; Department of Paediatrics, Neurology Division, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA.
  • Roos A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany.
  • Tarnopolsky M; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Duisburg-Essen, Germany.
  • Höke A; Division of Neuromuscular & Neurometabolic Disorders, Department of Paediatrics, McMaster University, Hamilton Health Sciences Centre, Hamilton, Ontario, Canada.
  • Brown RH; Department of Neurology, Neuromuscular Division, Johns Hopkins School of Medicine, Baltimore, MD, USA.
  • Lee CH; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
  • Hornemann T; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Dunn TM; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Bönnemann CG; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA. teresa.dunn-giroux@usuhs.edu.
Nat Med ; 27(7): 1197-1204, 2021 Jul.
Article en En | MEDLINE | ID: mdl-34059824
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Esfingolípidos / Esclerosis Amiotrófica Lateral Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Esfingolípidos / Esclerosis Amiotrófica Lateral Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Med Asunto de la revista: BIOLOGIA MOLECULAR / MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos