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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Salort-Campana, Emmanuelle; Fatehi, Farzad; Beloribi-Djefaflia, Sadia; Roche, Stéphane; Nguyen, Karine; Bernard, Rafaelle; Cintas, Pascal; Solé, Guilhem; Bouhour, Françoise; Ollagnon, Elisabeth; Sacconi, Sabrina; Echaniz-Laguna, Andoni; Kuntzer, Thierry; Levy, Nicolas; Magdinier, Frédérique; Attarian, Shahram.
Afiliação
  • Salort-Campana E; Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 264 rue Saint-Pierre, Cedex 05 13385 Marseille, France.
  • Fatehi F; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
  • Beloribi-Djefaflia S; Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 264 rue Saint-Pierre, Cedex 05 13385 Marseille, France.
  • Roche S; Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 264 rue Saint-Pierre, Cedex 05 13385 Marseille, France.
  • Nguyen K; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
  • Bernard R; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
  • Cintas P; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
  • Solé G; Service de Neurologie et d'explorations fonctionnelles, Centre Hospitalier Universitaire de Toulouse, 31000 Toulouse, France.
  • Bouhour F; Reference Center of Neuromuscular Disorders AOC, Bordeaux University Hospitals, 33000 Bordeaux, France.
  • Ollagnon E; Electroneuromyography and Neuromuscular Department, GHE Neurologic Hospital, Cedex 69677 Lyon-Bron, France.
  • Sacconi S; Neurogenetic Department, GHN Croix-Rousse Hospital, 69004 Lyon, France.
  • Echaniz-Laguna A; Neuromuscular Disease Specialized Center, Nice University Hospital, 06000 Nice, France.
  • Kuntzer T; Neurology Department, APHP, CHU de Bicêtre, 78 rue du Général Leclerc, Cedex 94276 Le Kremlin-Bicêtre, France.
  • Levy N; Nerve-Muscle Unit, Department of Clinical Neurosciences, Lausanne University, Hospital (CHUV), Lausanne 1002, Switzerland.
  • Magdinier F; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
  • Attarian S; Medical Genetics, Aix Marseille Université-Inserm UMR_1251, 13005 Marseille, France.
Int J Mol Sci ; 21(6)2020 Mar 23.
Article em En | MEDLINE | ID: mdl-32210100
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequências Repetitivas de Ácido Nucleico / Predisposição Genética para Doença / Distrofia Muscular Facioescapuloumeral / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequências Repetitivas de Ácido Nucleico / Predisposição Genética para Doença / Distrofia Muscular Facioescapuloumeral / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article