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Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Jacquier, Arnaud; Ribault, Shams; Mendes, Michel; Lacoste, Nicolas; Risson, Valérie; Carras, Julien; Latour, Philippe; Nadaj-Pakleza, Aleksandra; Stojkovic, Tanya; Schaeffer, Laurent.
  • Jacquier A; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
  • Ribault S; Centre de Biotechnologie Cellulaire, CBC Biotec, CHU de Lyon-HCL groupement Est, Bron, France.
  • Mendes M; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
  • Lacoste N; Service de Médecine Physique et de Réadaptation, Hôpital Henry Gabrielle, Hospices Civils de Lyon, Saint-Genis-Laval, France.
  • Risson V; Service de Neurologie, Centro Hospitalar Trás-os-Montes e Alto Douro, Vila Real, Portugal.
  • Carras J; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
  • Latour P; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
  • Nadaj-Pakleza A; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
  • Stojkovic T; Centre de Biotechnologie Cellulaire, CBC Biotec, CHU de Lyon-HCL groupement Est, Bron, France.
  • Schaeffer L; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM U1315, Lyon, France.
Hum Mutat ; 43(12): 1898-1908, 2022 12.
Article en En | MEDLINE | ID: mdl-35904125
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedad de Charcot-Marie-Tooth Límite: Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedad de Charcot-Marie-Tooth Límite: Adult / Humans Idioma: En Año: 2022 Tipo del documento: Article