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Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone, Virginia; Del Re, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; Volpi, Nila; Fulceri, Rosella; Battistutta, Roberto; Reggiani, Carlo; Sorrentino, Vincenzo.
  • Barone V; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Del Re V; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Gamberucci A; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Polverino V; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Galli L; Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Rossi D; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Costanzi E; Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Toniolo L; Department of Chemical Sciences, University of Padova, Padova, Italy.
  • Berti G; Department of Biomedical Sciences, University of Padova, Padova, Italy.
  • Malandrini A; CNR, Institute of Neuroscience, Padova, Italy.
  • Ricci G; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Siciliano G; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Vattemi G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Tomelleri G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Pierantozzi E; Department of Neurological Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Spinozzi S; Department of Neurological Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Volpi N; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Fulceri R; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Battistutta R; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
  • Reggiani C; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Sorrentino V; Department of Chemical Sciences, University of Padova, Padova, Italy.
Hum Mutat ; 38(12): 1761-1773, 2017 12.
Article en En | MEDLINE | ID: mdl-28895244
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas de Unión al Calcio / Calcio / Miopatías Estructurales Congénitas / Proteínas Mitocondriales Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas de Unión al Calcio / Calcio / Miopatías Estructurales Congénitas / Proteínas Mitocondriales Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article