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Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Cavestro, Chiara; Panteghini, Celeste; Reale, Chiara; Nasca, Alessia; Fenu, Silvia; Salsano, Ettore; Chiapparini, Luisa; Garavaglia, Barbara; Pareyson, Davide; Di Meo, Ivano; Tiranti, Valeria.
  • Cavestro C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Panteghini C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Reale C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Fenu S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Chiapparini L; Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Garavaglia B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Di Meo I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ivano.dimeo@istituto-besta.it.
  • Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. valeria.tiranti@istituto-besta.it.
Neurogenetics ; 22(4): 347-351, 2021 10.
Article en En | MEDLINE | ID: mdl-34387792
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Encéfalo / Fosfolipasas A2 Grupo VI / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Encéfalo / Fosfolipasas A2 Grupo VI / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Año: 2021 Tipo del documento: Article