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Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Llauradó, Arnau; Gratacòs-Viñola, Margarida; Rovira-Moreno, Eulàlia; Codina-Solà, Marta; Salvadó, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier; Raguer, Núria; Garcia-Arumi, Elena; Juntas-Morales, Raul.
Afiliación
  • Llauradó A; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Department of Neurology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Gratacòs-Viñola M; Department of Clinical Neurophysiology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Salvadó M; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Department of Neurology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Sanchez-Tejerina D; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Department of Neurology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Sotoca J; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Department of Neurology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Raguer N; Department of Clinical Neurophysiology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Garcia-Arumi E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Juntas-Morales R; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Department of Neurology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Muscle Nerve ; 67(6): E22-E24, 2023 06.
Article en En | MEDLINE | ID: mdl-36631979
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial Límite: Adult / Humans / Male Idioma: En Revista: Muscle Nerve Año: 2023 Tipo del documento: Article País de afiliación: España
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neuropatía Hereditaria Motora y Sensorial Límite: Adult / Humans / Male Idioma: En Revista: Muscle Nerve Año: 2023 Tipo del documento: Article País de afiliación: España