Article
VPS35 and DNAJC13 disease-causing variants in essential tremor.
European journal of human genetics : EJHG - 1 Jun 2015
Rajput Alex, Ross Jay P, Bernales Cecily Q, Rayaprolu Sruti, Soto-Ortolaza Alexandra I, Ross Owen A, van Gerpen Jay, Uitti Ryan J, Wszolek Zbigniew K, Rajput Ali H, Vilariño-Güell Carles
Abstract excerpt
Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes...
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