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Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis, Menelaos; Cortese, Andrea; Polke, James M; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M; Reilly, Mary M.
Afiliación
  • Pipis M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Cortese A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Polke JM; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Poh R; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Vandrovcova J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Laura M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Skorupinska M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Jacquier A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Juntas-Morales R; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Universite de Lyon, Lyon, France.
  • Latour P; Clinique du Motoneurone et Pathologies Neuromusculaires, CHRU de Montpellier, Montpellier, France.
  • Petiot P; Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.
  • Sole G; Neurologie et Explorations Fonctionnelles Neurologiques, Centre de Référence Maladies Neuromusculaires, Hospices Civils de Lyon, Lyon, France.
  • Fromes Y; Centre de Référence des Maladies Neuromusculaires, CHU Bordeaux GH Pellegrin, Bordeaux, France.
  • Shah S; Institut de Myologie, Laboratoire RMN, Hôpital Pitié-Salpêtrière, Paris, France.
  • Blake J; Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, London, UK.
  • Choi BO; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Chung KW; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norfolk, UK.
  • Stojkovic T; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Rossor AM; Department of Biological Sciences, Kongju National University, Gongju, South Korea.
  • Reilly MM; AP-HP, Reference Center for Neuromuscular Disorders, University Hospital Pitié Salpêtrière, Paris, France.
J Neurol Neurosurg Psychiatry ; 93(1): 48-56, 2022 01.
Article en En | MEDLINE | ID: mdl-34518334
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Filamentos Intermedios / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Etiology_studies / Observational_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Filamentos Intermedios / Enfermedad de Charcot-Marie-Tooth Tipo de estudio: Etiology_studies / Observational_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido