Article
TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
Parkinsonism & related disorders - 1 Mar 2015
Ortega-Cubero Sara, Lorenzo-Betancor Oswaldo, Lorenzo Elena, Agúndez José A G, Jiménez-Jiménez Félix J, Ross Owen A, Wurster Isabel, Mielke Carina, Lin Juei-Jueng, Coria Francisco, Clarimon Jordi, Ezquerra Mario, Brighina Laura, Annesi Grazia, Alonso-Navarro Hortensia, García-Martin Elena, Gironell Alex, Marti Maria J, Yueh Kuo-Chu, Wszolek Zbigniew K, Sharma Manu, Berg Daniela, Krüger Rejko, Pastor Maria A, Pastor Pau
Abstract excerpt
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;...
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