Your browser doesn't support javascript.
loading
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
Di Blasi, Claudia; Sansanelli, Serena; Ruggieri, Alessandra; Moriggi, Manuela; Vasso, Michele; D'Adamo, Adamo Pio; Blasevich, Flavia; Zanotti, Simona; Paolini, Cecilia; Protasi, Feliciano; Tezzon, Frediano; Gelfi, Cecilia; Morandi, Lucia; Pessia, Mauro; Mora, Marina.
Afiliação
  • Di Blasi C; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Sansanelli S; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Ruggieri A; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Moriggi M; Department of Biomedical Sciences for Health, University of Milano, Milano, Italy.
  • Vasso M; Department of Biomedical Sciences for Health, University of Milano, Milano, Italy CNR-Institute of Bioimaging and Molecular Physiology, Milano, Italy.
  • D'Adamo AP; Medical Genetics, University of Trieste, Trieste, Italy.
  • Blasevich F; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Zanotti S; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Paolini C; CeSI, Center for Research on Ageing & Department of Neuroscience, Imaging, and Clinical Sciences, University G D'Annunzio of Chieti, Chieti, Italy.
  • Protasi F; CeSI, Center for Research on Ageing & Department of Neuroscience, Imaging, and Clinical Sciences, University G D'Annunzio of Chieti, Chieti, Italy.
  • Tezzon F; Neurology Unit, F Tappeiner Hospital of Merano, Merano, Italy.
  • Gelfi C; Department of Biomedical Sciences for Health, University of Milano, Milano, Italy CNR-Institute of Bioimaging and Molecular Physiology, Milano, Italy.
  • Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
  • Pessia M; Faculty of Medicine, Section of Physiology and Biochemistry, Department of Experimental Medicine, University of Perugia, Perugia, Italy.
  • Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
J Med Genet ; 52(9): 617-26, 2015 Sep.
Article em En | MEDLINE | ID: mdl-26136523
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Doenças por Armazenamento dos Lisossomos / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Agregação Patológica de Proteínas / Doenças Musculares País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Doenças por Armazenamento dos Lisossomos / Mutação de Sentido Incorreto / Proteínas Mitocondriais / Agregação Patológica de Proteínas / Doenças Musculares País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália