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Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino, M; Campana-Salort, E; Salvi, A; Cintas, P; Renard, D; Juntas Morales, R; Tard, C; Leturcq, F; Stojkovic, T; Bonello-Palot, N; Gorokhova, S; Mortreux, J; Maues De Paula, A; Lévy, N; Pouget, J; Cossée, M; Bartoli, M; Krahn, M; Attarian, S.
Afiliação
  • Cerino M; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Campana-Salort E; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Salvi A; APHM, Laboratoire de Biochimie, Hôpital de la Conception, Marseille, France.
  • Cintas P; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Renard D; APHM, centre de référence des maladies neuromusculaires et de la SLA, CHU La Timone, Marseille, France.
  • Juntas Morales R; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Tard C; Centre de référence de pathologie neuromusculaires, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
  • Leturcq F; Service de Neurologie, CHU de Nîmes, Univ. Montpellier, Nîmes, France.
  • Stojkovic T; Laboratoire de Génétique de Maladies Rares, Université de Montpellier, Montpellier, France.
  • Bonello-Palot N; Service de Neurologie, CHU de Montpellier, Montpellier, France.
  • Gorokhova S; U1172, Service de Neurologie, CHU de Lille, Lille, France.
  • Mortreux J; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Paris, France.
  • Maues De Paula A; APHP, Laboratoire de génétique et biologie moléculaires, HUPC Cochin, Paris, France.
  • Lévy N; APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Hôpital Pitié-Salpêtrière, Paris, France.
  • Pouget J; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Cossée M; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Bartoli M; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Krahn M; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Attarian S; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
Neuropathol Appl Neurobiol ; 46(6): 564-578, 2020 10.
Article em En | MEDLINE | ID: mdl-32342993
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Aberrações Cromossômicas / Proteínas Musculares / Doenças Neuromusculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calpaína / Aberrações Cromossômicas / Proteínas Musculares / Doenças Neuromusculares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França