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Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
Malfatti, Edoardo; Monges, Soledad; Lehtokari, Vilma-Lotta; Schaeffer, Ursula; Abath Neto, Osorio; Kiiski, Kirsi; Lubieniecki, Fabiana; Taratuto, Ana Lía; Wallgren-Pettersson, Carina; Laporte, Jocelyn; Romero, Norma B.
Afiliação
  • Malfatti E; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publiq
  • Monges S; Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
  • Lehtokari VL; Department of Medical Genetics, Haartman Institute, University of Helsinki, and the Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
  • Schaeffer U; Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
  • Abath Neto O; Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
  • Kiiski K; Department of Medical Genetics, Haartman Institute, University of Helsinki, and the Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
  • Lubieniecki F; Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
  • Taratuto AL; Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
  • Wallgren-Pettersson C; The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Laporte J; Department of Translational Medecine, IGBMC, INSERM U964, UMR7104, Strasbourg University, Illkirch, France.
  • Romero NB; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publiq
Eur J Med Genet ; 58(10): 556-61, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26403434
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Transtornos Neurológicos da Marcha / Proteínas Musculares Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Transtornos Neurológicos da Marcha / Proteínas Musculares Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Holanda