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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod, Julie; Moutton, Sébastien; Lavie, Julie; Maurat, Elise; Hubert, Christophe; Bellance, Nadège; Anheim, Mathieu; Forlani, Sylvie; Mochel, Fanny; N'Guyen, Karine; Thauvin-Robinet, Christel; Verny, Christophe; Milea, Dan; Lesca, Gaëtan; Koenig, Michel; Rodriguez, Diana; Houcinat, Nada; Van-Gils, Julien; Durand, Christelle M; Guichet, Agnès; Barth, Magalie; Bonneau, Dominique; Convers, Philippe; Maillart, Elisabeth; Guyant-Marechal, Lucie; Hannequin, Didier; Fromager, Guillaume; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Valence, Stéphanie; Charles, Perrine; Berquin, Patrick; Rooryck, Caroline; Bouron, Julie; Brice, Alexis; Lacombe, Didier; Rossignol, Rodrigue; Stevanin, Giovanni; Benard, Giovanni; Burglen, Lydie; Durr, Alexandra; Goizet, Cyril; Coupry, Isabelle.
Afiliación
  • Pilliod J; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Moutton S; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Lavie J; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France.
  • Maurat E; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Hubert C; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Bellance N; Functional Genomics Center, University of Bordeaux, Bordeaux, France.
  • Anheim M; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Forlani S; Neurology Service, Strasbourg University Hospitals, Strasbourg, France.
  • Mochel F; Molecular Cell Biology Genetics Institute, INSERM U964/CNRS UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.
  • N'Guyen K; Strasbourg Federation of Translational Medicine, University of Strasbourg, Illkirch-Graffenstaden, France.
  • Thauvin-Robinet C; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
  • Verny C; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
  • Milea D; Brain and Spinal Cord Institute, INSERM U1127, CNRS UMR7225, Sorbonne Universities-Pierre and Marie Curie University, Paris, France.
  • Lesca G; Department of Medical Genetics, Timone Hospital, Marseille, France.
  • Koenig M; Genetics Center, Dijon University Hospital Center, Dijon, France.
  • Rodriguez D; Nantes Angers le Mans University and Neurology Service, CNRS UMR6214, INSERM U1083, University Hospital Center, Angers, France.
  • Houcinat N; Ophthalmology Service, Angers University Hospital Center, Angers, France and Singapore National Eye Centre, Singapore Eye Research Institute, Duke-National University of Singapore, Singapore.
  • Van-Gils J; Genetics Service, Lyon University Hospital Center, Lyon, France.
  • Durand CM; Molecular Genetics Laboratory, INSERM U827, Montpellier Regional University Hospital Center, Montpellier, France.
  • Guichet A; Rare Diseases Reference Center "Defects and Congenital Diseases of the Cerebellum," Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Barth M; Robert Debré Hospital, INSERM U1141, Paris, France.
  • Bonneau D; Genetics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Convers P; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France.
  • Maillart E; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France.
  • Guyant-Marechal L; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Hannequin D; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France.
  • Fromager G; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France.
  • Afenjar A; Neuropediatrics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Sorbonne Universities-Pierre and Marie Curie University, Paris, France.
  • Chantot-Bastaraud S; Nantes Angers le Mans University and Department of Biochemistry and Genetics, University Hospital Center, Angers, France.
  • Valence S; Clinical Neurophysiology Service, Saint-Étienne University Hospital Center, Saint-Étienne, France.
  • Charles P; Neurology Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
  • Berquin P; Neurology Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
  • Rooryck C; Clinical Genetics Unit, Rouen University Hospital Center, Rouen, France.
  • Bouron J; Rare Diseases Reference Center "Defects and Congenital Diseases of the Cerebellum," Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Brice A; Neurologist, Caen, France.
  • Lacombe D; Rare Diseases Reference Center "Defects and Congenital Diseases of the Cerebellum," Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Rossignol R; Neurologist, Caen, France.
  • Stevanin G; Rare Diseases Reference Center "Defects and Congenital Diseases of the Cerebellum," Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Benard G; Genetics Service, Armand Trousseau Hospital, Public Hospital Network of Paris, Paris, France.
  • Burglen L; Genetics Service, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France.
  • Durr A; Amiens University Hospital Center, Pediatric Neurology Activity Center, Amiens, France.
  • Goizet C; Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
  • Coupry I; Medical Genetics Service, Pellegrin University Hospital Center, Bordeaux, France.
Ann Neurol ; 78(6): 871-86, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26288984
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biomarcadores / Ataxias Espinocerebelosas / Proteínas de Choque Térmico / Mitocondrias / Espasticidad Muscular Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Año: 2015 Tipo del documento: Article País de afiliación: Francia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biomarcadores / Ataxias Espinocerebelosas / Proteínas de Choque Térmico / Mitocondrias / Espasticidad Muscular Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Año: 2015 Tipo del documento: Article País de afiliación: Francia