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Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi, Gaetano Nicola Alfio; Rossi, Daniela; Galli, Lucia; Catallo, Maria Rosaria; Pancheri, Elia; Marchetto, Giulia; Cisterna, Barbara; Malatesta, Manuela; Pierantozzi, Enrico; Tonin, Paola; Sorrentino, Vincenzo.
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  • Vattemi GNA; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Rossi D; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Galli L; Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero Universitaria Senese, Siena, Italy.
  • Catallo MR; Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero Universitaria Senese, Siena, Italy.
  • Pancheri E; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Marchetto G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Cisterna B; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Malatesta M; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Anatomy and Histology, University of Verona, Verona, Italy.
  • Pierantozzi E; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Anatomy and Histology, University of Verona, Verona, Italy.
  • Tonin P; Department of Molecular and Developmental Medicine, Molecular Medicine Section, University of Siena, Siena, Italy.
  • Sorrentino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Anatomy and Histology, University of Verona, Verona, Italy.
Eur J Neurosci ; 56(3): 4214-4223, 2022 08.
Article en En | MEDLINE | ID: mdl-35666680
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Hipertermia Maligna Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Neurosci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Hipertermia Maligna Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Neurosci Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Italia