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Dokumenttyp:
journal article 
Autor(en):
Schulte, Eva C; Stahl, Immanuel; Czamara, Darina; Ellwanger, Daniel C; Eck, Sebastian; Graf, Elisabeth; Mollenhauer, Brit; Zimprich, Alexander; Lichtner, Peter; Haubenberger, Dietrich; Pirker, Walter; Brücke, Thomas; Bereznai, Benjamin; Molnar, Maria J; Peters, Annette; Gieger, Christian; Müller-Myhsok, Bertram; Trenkwalder, Claudia; Winkelmann, Juliane 
Titel:
Rare variants in PLXNA4 and Parkinson's disease. 
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 familial PD followed by frequency assessment in 975 PD cases and 1014 ethnically-matched controls and linkage analysis to identify potentially causal variants. Based on the predicted penetrance and the frequencies, a variant in PLXNA4 prove...    »
 
Zeitschriftentitel:
PLoS ONE 
Jahr:
2013 
Band / Volume:
Heft / Issue:
11 
Seitenangaben Beitrag:
e79145 
Sprache:
eng 
TUM Einrichtung:
Neurologische Klinik und Poliklinik