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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Salort-Campana, Emmanuelle; Nguyen, Karine; Bernard, Rafaelle; Jouve, Elisabeth; Solé, Guilhem; Nadaj-Pakleza, Aleksandra; Niederhauser, Julien; Charles, Estelle; Ollagnon, Elisabeth; Bouhour, Françoise; Sacconi, Sabrina; Echaniz-Laguna, Andoni; Desnuelle, Claude; Tranchant, Christine; Vial, Christophe; Magdinier, Frederique; Bartoli, Marc; Arne-Bes, Marie-Christine; Ferrer, Xavier; Kuntzer, Thierry; Levy, Nicolas; Pouget, Jean; Attarian, Shahram.
Afiliação
  • Salort-Campana E; AP-HM, Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 rue Saint-Pierre, Marseille, Cedex 05, 13385, France. emmanuelle.salort-campana@ap-hm.fr.
  • Nguyen K; Aix Marseille Université - Inserm UMR_S 910 Medical Genetics and Functional Genomics, Marseille, France. emmanuelle.salort-campana@ap-hm.fr.
  • Bernard R; AP-HM, Department of Medical Genetics, Timone University Hospital, Marseille, France. emmanuelle.salort-campana@ap-hm.fr.
  • Jouve E; Aix Marseille Université - Inserm UMR_S 910 Medical Genetics and Functional Genomics, Marseille, France. karine.nguyen@ap-hm.fr.
  • Solé G; AP-HM, Department of Medical Genetics, Timone University Hospital, Marseille, France. karine.nguyen@ap-hm.fr.
  • Nadaj-Pakleza A; Aix Marseille Université - Inserm UMR_S 910 Medical Genetics and Functional Genomics, Marseille, France. rafaelle.bernard@ap-hm.fr.
  • Niederhauser J; AP-HM, Department of Medical Genetics, Timone University Hospital, Marseille, France. rafaelle.bernard@ap-hm.fr.
  • Charles E; CIC-UPCET, Timone University Hospital, AP-HM, UMR CNRS Aix-Marseille University 6193, Marseille, France. elisabeth.jouve@ap-hm.fr.
  • Ollagnon E; Reference Center of Neuromuscular Disorders, CHU of Bordeaux, Pessac, France. guilhem.sole@chu-bordeaux.fr.
  • Bouhour F; Centre de Référence des Maladies Neuromusculaires Nantes-Angers, Service de Neurologie, CHU d'Angers, Angers, France. alpakleza@chu-angers.fr.
  • Sacconi S; Nerve-Muscle Unit, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland. julien.niederhauser@ghol.ch.
  • Echaniz-Laguna A; CIC-UPCET, Timone University Hospital, AP-HM, UMR CNRS Aix-Marseille University 6193, Marseille, France. estelle.charles@ap-hm.fr.
  • Desnuelle C; Croix-Rousse Hospital, Lyon, France. elisabeth.ollagnon@chu-lyon.fr.
  • Tranchant C; Electroneuromyography and Neuromuscular Department, GHE Neurologic hospital, Lyon, Bron Cedex, 69677, France. francoise.bouhour@chu-lyon.fr.
  • Vial C; Neuromuscular Disease Specialized Center, Nice University Hospital, Nice, France. SACCONI.S@chu-nice.fr.
  • Magdinier F; Reference Center of Neuromuscular Disorders, Neurology Department, Hautepierre Hospital, Strasbourg, France. andoni.echaniz-laguna@chru-strasbourg.fr.
  • Bartoli M; Neuromuscular Disease Specialized Center, Nice University Hospital, Nice, France. desnuelle.c@chu-nice.fr.
  • Arne-Bes MC; Reference Center of Neuromuscular Disorders, Neurology Department, Hautepierre Hospital, Strasbourg, France. christine.tranchant@chru-strasbourg.fr.
  • Ferrer X; Electroneuromyography and Neuromuscular Department, GHE Neurologic hospital, Lyon, Bron Cedex, 69677, France. christophe.vial@chu-lyon.fr.
  • Kuntzer T; Aix Marseille Université - Inserm UMR_S 910 Medical Genetics and Functional Genomics, Marseille, France. frederique.magdinier@univ-amu.fr.
  • Levy N; Aix Marseille Université - Inserm UMR_S 910 Medical Genetics and Functional Genomics, Marseille, France. marc.bartoli@univ-amu.fr.
  • Pouget J; Reference Center of Neuromuscular Disorders, CHU of Toulouse, Toulouse, France. arne-bes.mc@chu-toulouse.fr.
  • Attarian S; Reference Center of Neuromuscular Disorders, CHU of Bordeaux, Pessac, France. xavier.ferrer@chu-bordeaux.fr.
Orphanet J Rare Dis ; 10: 2, 2015 Jan 21.
Article em En | MEDLINE | ID: mdl-25603992
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Penetrância / Distrofia Muscular Facioescapuloumeral Tipo de estudo: Clinical_trials / Guideline / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Penetrância / Distrofia Muscular Facioescapuloumeral Tipo de estudo: Clinical_trials / Guideline / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article