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Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina, Adela; Arlt, Annabelle; Schara-Schmidt, Ulrike; Depienne, Christel; Gangfuß, Andrea; Kölbel, Heike; Sickmann, Albert; Freier, Erik; Kohlschmidt, Nicolai; Hentschel, Andreas; Weis, Joachim; Czech, Artur; Grüneboom, Anika; Roos, Andreas.
Afiliación
  • Della Marina A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
  • Arlt A; Institute of Clinical Genetics and Tumor Genetics Bonn, 53111 Bonn, Germany.
  • Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
  • Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
  • Gangfuß A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
  • Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
  • Sickmann A; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  • Freier E; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  • Kohlschmidt N; Institute of Clinical Genetics and Tumor Genetics Bonn, 53111 Bonn, Germany.
  • Hentschel A; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  • Weis J; Institute of Neuropathology, University Hospital Aachen, RWTH-Aachen University, 52074 Aachen, Germany.
  • Czech A; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  • Grüneboom A; Leibniz-Institut für Analytische Wissenschaften -ISAS- e.V., 44139 Dortmund, Germany.
  • Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
Cells ; 10(12)2021 12 09.
Article en En | MEDLINE | ID: mdl-34943989
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Proteínas de Transporte Vesicular de Acetilcolina / Unión Neuromuscular Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Cells Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos / Proteínas de Transporte Vesicular de Acetilcolina / Unión Neuromuscular Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Cells Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza