Your browser doesn't support javascript.
loading
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Bonnet, Céline; Pellerin, David; Roth, Virginie; Clément, Guillemette; Wandzel, Marion; Lambert, Laëtitia; Frismand, Solène; Douarinou, Marian; Grosset, Anais; Bekkour, Ines; Weber, Frédéric; Girardier, Florent; Robin, Clément; Cacciatore, Stéphanie; Bronner, Myriam; Pourié, Carine; Dreumont, Natacha; Puisieux, Salomé; Iruzubieta, Pablo; Dicaire, Marie-Josée; Evoy, François; Rioux, Marie-France; Hocquel, Armand; La Piana, Roberta; Synofzik, Matthis; Houlden, Henry; Danzi, Matt C; Zuchner, Stephan; Brais, Bernard; Renaud, Mathilde.
Afiliación
  • Bonnet C; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France. ce.bonnet@chru-nancy.fr.
  • Pellerin D; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France. ce.bonnet@chru-nancy.fr.
  • Roth V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • Clément G; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
  • Wandzel M; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Lambert L; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.
  • Frismand S; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Douarinou M; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Grosset A; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.
  • Bekkour I; Service de Génétique Clinique, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Weber F; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Girardier F; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Robin C; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Cacciatore S; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Bronner M; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Pourié C; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Dreumont N; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Puisieux S; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Iruzubieta P; Laboratoire de Génétique Médicale, Hôpitaux de Brabois - CHRU de Nancy, Nancy, France.
  • Dicaire MJ; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.
  • Evoy F; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France.
  • Rioux MF; Service de Neurologie, CHRU de Nancy, Nancy, France.
  • Hocquel A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
  • La Piana R; Department of Neurology, Donostia University Hospital, San Sebastian, Spain.
  • Synofzik M; Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Spain.
  • Houlden H; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain.
  • Danzi MC; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
  • Zuchner S; Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
  • Brais B; Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
  • Renaud M; Service de Neurologie, CHRU de Nancy, Nancy, France.
Sci Rep ; 13(1): 9737, 2023 06 15.
Article en En | MEDLINE | ID: mdl-37322040
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Sci Rep Año: 2023 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Ataxia de Friedreich / Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Sci Rep Año: 2023 Tipo del documento: Article País de afiliación: Francia