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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G.
Affiliation
  • Syeda SB; 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 Zürich, Zürich, Switzerland.
  • 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.
  • Munot P; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
  • França MC; Department of Neurology, University of Campinas, Campinas, Sao Paulo, Brazil.
  • Galarza-Brito JE; Hospital Pablo Arturo Suarez, Quito, Ecuador.
  • Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
  • Asamoah A; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
  • Gable K; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
  • Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.
  • Schumann A; Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, Medical Centre, University of Freiburg, Baden-Württemberg, Germany.
  • Gupta SD; Department of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
  • Lakhotia A; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
  • Shieh PB; University of Louisville, Louisville, Kentucky, USA.
  • Foley AR; Department of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, CA, USA.
  • Jackson KE; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Chao KR; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
  • Winder TL; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Catapano F; Invitae Corporation, San Francisco, California, USA.
  • Feng L; Dubowitz Neuromuscular Centre, CL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Kirschner J; Dubowitz Neuromuscular Centre, CL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Muntoni F; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
  • Dunn TM; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
  • Hornemann T; Dubowitz Neuromuscular Centre, CL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Bönnemann CG; Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA.
J Neurol Neurosurg Psychiatry ; 95(2): 103-113, 2024 Jan 11.
Article de En | MEDLINE | ID: mdl-38041679
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Neuropathies héréditaires sensitives et autonomes / Maladies neurodégénératives / Sclérose latérale amyotrophique Limites: Child / Humans Langue: En Journal: J Neurol Neurosurg Psychiatry Année: 2024 Type de document: Article Pays d'affiliation: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Neuropathies héréditaires sensitives et autonomes / Maladies neurodégénératives / Sclérose latérale amyotrophique Limites: Child / Humans Langue: En Journal: J Neurol Neurosurg Psychiatry Année: 2024 Type de document: Article Pays d'affiliation: États-Unis d'Amérique