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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup: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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