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New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
Kölbel, Heike; Kraft, Florian; Hentschel, Andreas; Czech, Artur; Gangfuss, Andrea; Mohassel, Payam; Nguyen, Chi; Stenzel, Werner; Schara-Schmidt, Ulrike; Preuße, Corinna; Roos, Andreas.
Afiliación
  • Kölbel H; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
  • Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062 Aachen, Germany.
  • Hentschel A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
  • Czech A; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
  • Gangfuss A; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
  • Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Dr., Bethesda, MD 20892, USA.
  • Nguyen C; Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
  • Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
  • Schara-Schmidt U; Department of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
  • Preuße C; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
  • Roos A; Department of Neurology with Institute for Translational Neurology, University Hospital Münster, 48149 Münster, Germany.
Genes (Basel) ; 13(5)2022 05 17.
Article en En | MEDLINE | ID: mdl-35627278
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Serina C-Palmitoiltransferasa / Mutación con Ganancia de Función / Esclerosis Amiotrófica Lateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Serina C-Palmitoiltransferasa / Mutación con Ganancia de Función / Esclerosis Amiotrófica Lateral Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Alemania