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Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano, Filomena; Bruno, Giorgia; Terracciano, Chiara; Franzese, Giuseppina; Palomba, Nicole Piera; Scotto di Carlo, Federica; Signoriello, Elisabetta; De Blasiis, Paolo; Navarro, Stefano; Gialluisi, Alessandro; Melone, Mariarosa Anna Beatrice; Sampaolo, Simone; Esposito, Teresa.
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  • 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", 80131 Naples, Italy.
  • Bruno G; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.
  • Terracciano C; 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", 80131 Naples, Italy.
  • Franzese 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", 80131 Naples, Italy.
  • Palomba NP; Neurology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.
  • Scotto di Carlo 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", 80131 Naples, Italy.
  • Signoriello E; IRCCS INM Neuromed, Pozzilli, 86077 Isernia, Italy.
  • De Blasiis P; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.
  • Navarro S; 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", 80131 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", 80131 Naples, Italy.
  • Melone MAB; Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.
  • Sampaolo S; IRCCS INM Neuromed, Pozzilli, 86077 Isernia, 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", 80131 Naples, Italy.
Int J Mol Sci ; 22(7)2021 Mar 31.
Article en En | MEDLINE | ID: mdl-33807278
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autofagia / Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autofagia / Enfermedad del Almacenamiento de Glucógeno Tipo II / Alfa-Glucosidasas Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza