The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

OBJECTIVE: To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD). METHODS: Two PD patient cohorts of Ashkenazi Jewish (AJ...

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主要な著者: Gan-Or, Ziv, Ozelius, Laurie J., Bar-Shira, Anat, Saunders-Pullman, Rachel, Mirelman, Anat, Kornreich, Ruth, Gana-Weisz, Mali, Raymond, Deborah, Rozenkrantz, Liron, Deik, Andres, Gurevich, Tanya, Gross, Susan J., Schreiber-Agus, Nicole, Giladi, Nir, Bressman, Susan B., Orr-Urtreger, Avi
フォーマット: Artigo
言語:Inglês
出版事項: Lippincott Williams & Wilkins 2013
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662322/
https://ncbi.nlm.nih.gov/pubmed/23535491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828f180e
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