First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

The c.4309A>C mutation in the LRRK2 gene (LRRK2 p.N1437H) has recently been reported as the seventh pathogenic LRRK2 mutation causing monogenic Parkinson's disease (PD). So far, only two families worldwide have been identified with this mutation. By screening DNA from seven brains of PD pati...

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書誌詳細
主要な著者: Puschmann, Andreas, Englund, Elisabet, Ross, Owen A., Vilariño-Güell, Carles, Lincoln, Sarah J., Kachergus, Jennifer M., Cobb, Stephanie A., Törnqvist, Anna-Lena, Rehncrona, Stig, Widner, Håkan, Wszolek, Zbigniew K., Farrer, Matthew J., Nilsson, Christer
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330199/
https://ncbi.nlm.nih.gov/pubmed/22154298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2011.11.019
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