Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

Abstract Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson’s disease (PD) and multiple system atrophy (MSA). We have further investigated our recent finding of somatic SNCA (α-synuclein) copy number variants (CNVs, specifically g...

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Bibliographic Details
Main Authors: Diego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucia Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H. V. Schapira, Thomas T. Warner, Janice L. Holton, Zane Jaunmuktane, Christos Proukakis
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Acta Neuropathologica Communications
Subjects:
Multiple system atrophy
Parkinson’s disease
Alpha-synuclein
SNCA
Somatic mutation
Single cell sequencing
Online Access:https://doi.org/10.1186/s40478-019-0873-5

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