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Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Napolitano, Filomena; Terracciano, Chiara; Bruno, Giorgia; De Blasiis, Paolo; Lombardi, Luca; Gialluisi, Alessandro; Gianfrancesco, Fernando; De Giovanni, Donatella; Tummolo, Albina; Di Iorio, Giuseppe; Limongelli, Giuseppe; Esposito, Teresa; Melone, Mariarosa Anna Beatrice; Sampaolo, Simone.
Afiliação
  • Napolitano F; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Terracciano C; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy.
  • Bruno G; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • De Blasiis P; Neurology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy.
  • Lombardi L; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Gialluisi A; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Gianfrancesco F; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • De Giovanni D; IRCCS INM Neuromed, Pozzilli, IS, Italy.
  • Tummolo A; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy.
  • Di Iorio G; Metabolic Diseases and Clinical Genetics Unit, Children's Hospital Giovanni XXIII, Bari, Italy.
  • Limongelli G; Metabolic Diseases and Clinical Genetics Unit, Children's Hospital Giovanni XXIII, Bari, Italy.
  • Esposito T; Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Inter University Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Melone MAB; Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Sampaolo S; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Naples, Italy.
Neuropathol Appl Neurobiol ; 47(5): 664-678, 2021 08.
Article em En | MEDLINE | ID: mdl-33393119
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Autofagia / Doenças por Armazenamento dos Lisossomos / Genótipo / Doenças Musculares Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Autofagia / Doenças por Armazenamento dos Lisossomos / Genótipo / Doenças Musculares Tipo de estudo: Guideline / Prognostic_studies Limite: Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália