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SORL1 mutation in a Greek family with Parkinson's disease and dementia

Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel h...

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Detalles Bibliográficos
Autores principales: Xiromerisiou, Georgia, Bourinaris, Thomas, Houlden, Henry, Lewis, Patrick A., Senkevich, Konstantin, Hammer, Monia, Federoff, Monica, Khan, Alaa, Spanaki, Cleanthe, Hadjigeorgiou, Georgios M., Bonstanjopoulou, Sevasti, Fidani, Liana, Ermolaev, Aleksey, Gan‐Or, Ziv, Singleton, Andrew, Vandrovcova, Jana, Hardy, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528452/
https://www.ncbi.nlm.nih.gov/pubmed/34506082
http://dx.doi.org/10.1002/acn3.51433