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Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles, Rocio Nur; Sternberg, Damien; Tredez, Grégoire; Beatriz Romero, Norma; Evangelista, Teresinha; Lafôret, Pascal; Cintas, Pascal; Sole, Guilhem; Sacconi, Sabrina; Bendahhou, Said; Franques, Jérôme; Cances, Claude; Noury, J B; Delmont, Emilien; Blondy, Patricia; Perrin, Laurence; Hezode, Marianne; Fournier, Emmanuel; Fontaine, Bertrand; Stojkovic, Tanya; Vicart, Savine.
Afiliação
  • Villar-Quiles RN; Reference Center for Neuromuscular Disorders, APHP, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Sternberg D; Institute of Myology, Centre de Recherche en Myologie, UMRS974, Sorbonne Université - INSERM, Paris, France.
  • Tredez G; Reference Center for Muscle Channelopathies, Service de Biochimie et Centre de Génétique, APHP, Pitié-Salpêtrière Hospital, Paris, France.
  • Beatriz Romero N; Reference Center for Neuromuscular Disorders, APHP, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Evangelista T; Institute of Myology, Centre de Recherche en Myologie, UMRS974, Sorbonne Université - INSERM, Paris, France.
  • Lafôret P; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Cintas P; Reference Center for Neuromuscular Disorders, APHP, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Sole G; Institute of Myology, Centre de Recherche en Myologie, UMRS974, Sorbonne Université - INSERM, Paris, France.
  • Sacconi S; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
  • Bendahhou S; Reference Center for Neuromuscular Disorders, APHP, Raymond-Poincaré Hospital, Paris, France.
  • Franques J; Neurology Department, Pierre-Paul Riquet Hospital, CHU Toulouse, Toulouse, France.
  • Cances C; Reference Centre for Neuromuscular Disorders, Pellegrin Hospital CHU Bordeaux, Bordeaux, France.
  • Noury JB; Neuromuscular Diseases and ALS Specialized Center, University of Nice-Sophia Antipolis, Nice, France.
  • Delmont E; UMR7370 CNRS, LP2M, Labex ICST, Faculty of Medicine, University of Nice-Sophia Antipolis, Nice, France.
  • Blondy P; Assistance Publique-Hôpitaux de Marseille, Department of Neurology and Neuromuscular Diseases, La Timone Hospital, Marseille, France.
  • Perrin L; AOC (Atlantique-Occitanie-Caraïbe) Reference Centre for Neuromuscular Disorders, Neuropediatric Department, Toulouse University Hospital, Toulouse, France.
  • Hezode M; Neurology Department, Neuromuscular Center, CHRU Cavale Blanche, Brest, France.
  • Fournier E; Department of Neurology, University Hospital Timone, Marseille, France.
  • Fontaine B; Reference Center for Muscle Channelopathies, Service de Biochimie et Centre de Génétique, APHP, Pitié-Salpêtrière Hospital, Paris, France.
  • Stojkovic T; Pediatrics Department, APHP, Robert-Débré Hospital, Paris, France.
  • Vicart S; Reference Center for Neuromuscular Disorders, APHP, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
Eur J Neurol ; 29(8): 2398-2411, 2022 08.
Article em En | MEDLINE | ID: mdl-35460302
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Andersen Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Andersen Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França