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LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.

作者信息

Skorvanek Matej, Rizig Mie, Athanasiou-Fragkouli Alkyoni, Necpal Jan, Straka Igor, Tamas Gertrud, Kurca Egon, Mosejova Alexandra, Han Vladimir, Lorincova Tatiana, Ostrozovicova Miriam, Liesenerova Simona, Levicka Petra, Fajcikova Lucia, Minar Michal, Valkovic Peter, Mákos Orsolya, Kelemen Andrea, Grofik Milan, Cibulka Michal, Jama Fatumah, Houlden Henry

机构信息

Dept. of Neurology, P. J. Safarik University, Kosice, Slovak Republic; Dept. of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.

University College London, Institute of Neurology, Department of Neuromuscular Disorders, Queen Square, WC1N 3BG, London, UK.

出版信息

Parkinsonism Relat Disord. 2021 Feb;83:110-112. doi: 10.1016/j.parkreldis.2020.12.021. Epub 2021 Jan 11.

DOI:10.1016/j.parkreldis.2020.12.021
PMID:33561776
Abstract
摘要

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Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.中欧早发性和家族性帕金森病患者中LRRK2基因p.L1795F变异的患病率及临床特征
Mov Disord Clin Pract. 2025 Mar 22. doi: 10.1002/mdc3.70045.
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p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.
p.L1795F LRRK2变异是中欧帕金森病的常见病因。
Res Sq. 2024 May 29:rs.3.rs-4378197. doi: 10.21203/rs.3.rs-4378197/v1.
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Central European Group on Genetics of Movement Disorders.中欧运动障碍遗传学小组
Eur J Neurol. 2024 Apr;31(4):e16165. doi: 10.1111/ene.16165. Epub 2023 Dec 7.