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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Jonson, P H; Palmio, J; Johari, M; Penttilä, S; Evilä, A; Nelson, I; Bonne, G; Wiart, N; Meyer, V; Boland, A; Deleuze, J-F; Masson, C; Stojkovic, T; Chapon, F; Romero, N B; Solé, G; Ferrer, X; Ferreiro, A; Hackman, P; Richard, I; Udd, B.
Afiliação
  • Jonson PH; Folkhälsan Institute of Genetics, University of Helsinki, Medicum, Helsinki, Finland.
  • Palmio J; Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, Finland.
  • Johari M; Folkhälsan Institute of Genetics, University of Helsinki, Medicum, Helsinki, Finland.
  • Penttilä S; Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, Finland.
  • Evilä A; Folkhälsan Institute of Genetics, University of Helsinki, Medicum, Helsinki, Finland.
  • Nelson I; UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Sorbonne Universités, Paris, France.
  • Bonne G; UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Sorbonne Universités, Paris, France.
  • Wiart N; Centre National de Recherche en Génomique Humaine (CNRGH), CEA, Evry, France.
  • Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), CEA, Evry, France.
  • Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), CEA, Evry, France.
  • Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), CEA, Evry, France.
  • Masson C; Bioinformatics Core Facility, INSERM US24/CNRS UMS3633, INSERM UMR 1163, Institut Imagine, Université Paris Descartes - Structure Fédérative de Recherche Necker, Paris, France.
  • Stojkovic T; UPMC Univ Paris 06, INSERM UMRS 974, Center of Research in Myology, Institut de Myologie, Sorbonne Universités, Paris, France.
  • Chapon F; INSERM U1075, Neuromuscular Competence Center, CHU Caen, Université de Normandie, Caen, France.
  • Romero NB; Unit of Neuromuscular Morphology, Institute of Myology, UPMC Paris 6, INSERM UMRS 974, Pitié-Salpêtrière Hospital, Paris, France.
  • Solé G; Neuromuscular Reference Center, CHU Bordeaux, Bordeaux, France.
  • Ferrer X; Neuromuscular Reference Center, CHU Bordeaux, Bordeaux, France.
  • Ferreiro A; Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot/CNRS, Paris, France.
  • Hackman P; Reference Center for Neuromuscular Disorders, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
  • Richard I; Folkhälsan Institute of Genetics, University of Helsinki, Medicum, Helsinki, Finland.
  • Udd B; Généthon INSERM, U951, INTEGRARE Research Unit, University Paris-Saclay, Evry, France.
Eur J Neurol ; 25(5): 790-794, 2018 05.
Article em En | MEDLINE | ID: mdl-29437287
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Chaperonas Moleculares / Miopatias Distais / Distrofia Muscular do Cíngulo dos Membros / Proteínas de Choque Térmico HSP40 / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Chaperonas Moleculares / Miopatias Distais / Distrofia Muscular do Cíngulo dos Membros / Proteínas de Choque Térmico HSP40 / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Finlândia