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Title:

Rare variants in LRRK1 and Parkinson's disease.

Document type:
Journal Article; Article
Author(s):
Schulte, Eva C; Ellwanger, Daniel C; Dihanich, Sybille; Manzoni, Claudia; Stangl, Katrin; Schormair, Barbara; Graf, Elisabeth; Eck, Sebastian; Mollenhauer, Brit; Haubenberger, Dietrich; Pirker, Walter; Zimprich, Alexander; Brücke, Thomas; Lichtner, Peter; Peters, Annette; Gieger, Christian; Trenkwalder, Claudia; Mewes, Hans-Werner; Meitinger, Thomas; Lewis, Patrick A; Klünemann, Hans H; Winkelmann, Juliane
Abstract:
Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the co...     »
Journal title abbreviation:
Neurogenetics
Year:
2014
Journal volume:
15
Journal issue:
1
Pages contribution:
49-57
Language:
eng
Fulltext / DOI:
doi:10.1007/s10048-013-0383-8
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24241507
Print-ISSN:
1364-6745
TUM Institution:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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