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Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

Background. Parkinson's disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psyc...

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Detalles Bibliográficos
Autores principales: Ferese, Rosangela, Modugno, Nicola, Campopiano, Rosa, Santilli, Marco, Zampatti, Stefania, Giardina, Emiliano, Nardone, Annamaria, Postorivo, Diana, Fornai, Francesco, Novelli, Giuseppe, Romoli, Edoardo, Ruggieri, Stefano, Gambardella, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655296/
https://www.ncbi.nlm.nih.gov/pubmed/26635992
http://dx.doi.org/10.1155/2015/546462