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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha: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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