TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

@article{OrtegaCubero2015TREM2RV,
  title={TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.},
  author={Sara Ortega-Cubero and Oswaldo Lorenzo-Betancor and Elena Di Lorenzo and Jos{\'e} A. G. Ag{\'u}ndez and F{\'e}lix Javier Jim{\'e}nez-Jim{\'e}nez and Owen A. Ross and Isabel Wurster and Carina Mielke and Juei-Jueng Lin and Francisco Coria and Jordi Clarim{\'o}n and Mario Ezquerra and Laura Brighina and Grazia Annesi and Hortensia Alonso-Navarro and Elena Garcia-Martin and Alex Gironell and Maria Jose Marti and K C Yueh and Zbigniew K Wszolek and Manu Sharma and D. Berg and Rejko Krueger and Mar{\'i}a A. Pastor and Pau Pastor},
  journal={Parkinsonism & related disorders},
  year={2015},
  volume={21 3},
  pages={306-9}
}
INTRODUCTION Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.R47H substitution (rs75932628) in the TREM2 protein (triggering receptor expressed on myeloid cells 2; OMIM: *605086) has been proposed as a risk factor for AD, PD and amyotrophic lateral… CONTINUE READING
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