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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-35666680
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Hipertermia Maligna Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Neurosci Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Hipertermia Maligna Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Neurosci Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália