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An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille, Aurélien; Obre, Émilie; Banneau, Guillaume; Durr, Alexandra; Stevanin, Giovanni; Clot, Fabienne; Pennamen, Perrine; Perez, Jean-Thomas; Bailly-Scappaticci, Clémence; Rouanet, Marie; Delleci, Claire; Sole, Guilhem; Mathis, Stéphane; Goizet, Cyril.
Afiliação
  • Trimouille A; CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France. Electronic address: aurelien.trimouille@chu-bordeaux.fr.
  • Obre É; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France; CELLOMET (ADERA/Univ. Bordeaux), Bordeaux, France.
  • Banneau G; APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France.
  • Durr A; APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France; ICM - Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités - UPMC University Paris VI UMR_S1127 Paris, France.
  • Stevanin G; APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France; ICM - Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités - UPMC University Paris VI UMR_S1127 Paris, France; EPHE, PSL Research University, Paris, France.
  • Clot F; APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France.
  • Pennamen P; CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.
  • Perez JT; CHU Bordeaux, Service de Radiologie et d'Imagerie diagnostique et interventionnelle de l'adulte, F-33000 Bordeaux, France.
  • Bailly-Scappaticci C; CHU Bordeaux, Service de Radiologie et d'Imagerie diagnostique et interventionnelle de l'adulte, F-33000 Bordeaux, France.
  • Rouanet M; CHU Bordeaux, Service d'Explorations fonctionnelles du système nerveux, F-33000 Bordeaux, France.
  • Delleci C; CHU Bordeaux, Service de Médecine physique et de réadaptation, F-33000 Bordeaux, France.
  • Sole G; CHU Bordeaux, Service de Neurologie, F-33000 Bordeaux, France.
  • Mathis S; CHU Bordeaux, Service de Neurologie, F-33000 Bordeaux, France.
  • Goizet C; CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.
Clin Neurol Neurosurg ; 166: 1-3, 2018 03.
Article em En | MEDLINE | ID: mdl-29353221
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofias Musculares Espinais da Infância / Deleção de Genes / Proteínas Associadas aos Microtúbulos Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Neurol Neurosurg Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofias Musculares Espinais da Infância / Deleção de Genes / Proteínas Associadas aos Microtúbulos Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Neurol Neurosurg Ano de publicação: 2018 Tipo de documento: Article