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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi, Federica; Izzo, Rossella; Colangelo, Isabel; Legati, Andrea; Zanetti, Nadia; Garavaglia, Barbara; Lamantea, Eleonora; Peverelli, Lorenzo; Ardissone, Anna; Moroni, Isabella; Maggi, Lorenzo; Bonanno, Silvia; Fiori, Laura; Velardo, Daniele; Magri, Francesca; Comi, Giacomo P; Ronchi, Dario; Ghezzi, Daniele; Lamperti, Costanza.
Afiliação
  • Invernizzi F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Izzo R; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Colangelo I; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Legati A; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Zanetti N; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Lamantea E; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Peverelli L; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.
  • Ardissone A; Child Neurology Unit-Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Moroni I; Child Neurology Unit-Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Maggi L; Department of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Bonanno S; Department of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Fiori L; UOS di Malattie Metaboliche e Nutrizione, Ospedale dei Bambini Vittore Buzzi, 20154 Milan, Italy.
  • Velardo D; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Magri F; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Comi GP; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Ronchi D; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, 20122 Milan, Italy.
  • Ghezzi D; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Lamperti C; Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, 20122 Milan, Italy.
Genes (Basel) ; 14(7)2023 07 02.
Article em En | MEDLINE | ID: mdl-37510298
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Doenças Musculares / Doenças Neuromusculares Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Doenças Musculares / Doenças Neuromusculares Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália