Variants associated with Gaucher disease in multiple system atrophy

@inproceedings{Mitsui2015VariantsAW,
  title={Variants associated with Gaucher disease in multiple system atrophy},
  author={Jun Mitsui and Takashi Matsukawa and Hidenao Sasaki and Ichiro Yabe and Masaaki Matsushima and Alexandra D{\"u}rr and A. N. P. Brice and Hiroshi Takashima and Akio Kikuchi and Masashi Aoki and Hiroyuki Ishiura and Tsutomu Yasuda and Hidetoshi Date and Budrul Ahsan and Atsushi Iwata and Jun Goto and Yaeko Ichikawa and Yasuo Nakahara and Yoshio Momose and Yuji Takahashi and Kenju Hara and Akiyoshi Kakita and Mitsunori Yamada and Hitoshi Takahashi and Osamu Onodera and Masatoyo Nishizawa and Hirohisa Watanabe and Mizuki Ito and Gen Sobue and Kinnya Ishikawa and Hiroaki Yokote and Kazuaki Kanai and Takamichi Hattori and Satoshi Kuwabara and Kimihito Arai and Shigeru Koyano and Yoshiyuki Kuroiwa and Kazuko Hasegawa and Tatsuhiko Yuasa and Kenichi Yasui and Kenji Nakashima and Hijiri Ito and Yuishin Izumi and Ryuji Kaji and Takeo Kato and Susumu Kusunoki and Yasushi Osaki and Masahiro Horiuchi and Tomoyoshi Kondo and Shigeo Murayama and Nobutaka Hattori and Mitsutoshi Yamamoto and Masahiko Murata and Wataru Satake and Tatsushi Toda and Alessandro Filla and Thomas Klockgether and U. W{\"u}llner and G. E. Nicholson and S Douglass Gilman and Caroline M. Tanner and Walter A Kukull and Mathew B Stern and Virginia M-Y Lee and John Q. Trojanowski and Eliezer Masliah and Phillip Anson Low and Paola Sandroni and Laurie Ozelius and Tatiana Foroud and Shoji Tsuji},
  booktitle={Annals of clinical and translational neurology},
  year={2015}
}
OBJECTIVE Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series. METHODS We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North… CONTINUE READING
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