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Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Palmio, Johanna; Jonson, Per Harald; Inoue, Michio; Sarparanta, Jaakko; Bengoechea, Rocio; Savarese, Marco; Vihola, Anna; Jokela, Manu; Nakagawa, Masanori; Noguchi, Satoru; Olivé, Montse; Masingue, Marion; Kerty, Emilia; Hackman, Peter; Weihl, Conrad C; Nishino, Ichizo; Udd, Bjarne.
Afiliación
  • Palmio J; Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland. Electronic address: johanna.palmio@tuni.fi.
  • Jonson PH; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
  • Inoue M; National Center of Neurology and Psychiatry (NCNP), Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
  • Sarparanta J; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
  • Bengoechea R; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
  • Savarese M; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
  • Vihola A; Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
  • Jokela M; Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Division of Clinical Neurosciences, Turku University Hospital and University of Turku, Turku, Finland.
  • Nakagawa M; North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Noguchi S; National Center of Neurology and Psychiatry (NCNP), Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
  • Olivé M; Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain.
  • Masingue M; University Hospital of Salpêtrière, UPMC, Institute of Myology, National Reference Center for Neuromuscular Disorders, Paris, France.
  • Kerty E; Department of Neurology, Oslo University Hospital, Rikshospitalet, University of Oslo, Oslo, Norway.
  • Hackman P; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
  • Weihl CC; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.
  • Nishino I; National Center of Neurology and Psychiatry (NCNP), Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan.
  • Udd B; Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.
Neuromuscul Disord ; 30(1): 38-46, 2020 01.
Article en En | MEDLINE | ID: mdl-31955980
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Miopatías Distales / Proteínas del Choque Térmico HSP40 / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Chaperonas Moleculares / Miopatías Distales / Proteínas del Choque Térmico HSP40 / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article