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Pathogenic variants in three families with distal muscle involvement.
Weterman, Marian A J; Bronk, Marieke; Jongejan, Aldo; Hoogendijk, Jessica E; Krudde, Judith; Karjosukarso, Dyah; Goebel, Hans H; Aronica, Eleonora; Jöbsis, G Joost; van Ruissen, Fred; van Spaendonck-Zwarts, Karin Y; de Visser, Marianne; Baas, Frank.
Afiliación
  • Weterman MAJ; Department of Genome Analysis/Clinical Genetics, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, the Netherlands; Dept Clinical Genetics, LUMC, Leiden, the Netherlands. Electronic address: m.a.j.weterman@lumc.nl.
  • Bronk M; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • Jongejan A; Department of Bio-informatics, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • Hoogendijk JE; Department of Neurology, UMC Brain Center, University Medical Center, Utrecht, the Netherlands.
  • Krudde J; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • Karjosukarso D; Department of Genome Analysis/Clinical Genetics, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, the Netherlands.
  • Goebel HH; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • Aronica E; Department of Pathology, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, the Netherlands.
  • Jöbsis GJ; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • van Ruissen F; Department of Genome Analysis/Clinical Genetics, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, A
  • van Spaendonck-Zwarts KY; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • de Visser M; Department of Neurology, University Medical Center Amsterdam, location Academic Medical Center, Amsterdam, the Netherlands.
  • Baas F; Department of Genome Analysis/Clinical Genetics, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, the Netherlands; Dept Clinical Genetics, LUMC, Leiden, the Netherlands.
Neuromuscul Disord ; 33(1): 58-64, 2023 01.
Article en En | MEDLINE | ID: mdl-36539320
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article