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Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair B, Kemlink D, Mollenhauer B, Fiala O, Machetanz G, Roth J, Berutti R, Strom TM, Haslinger B, Trenkwalder C, Zahorakova D, Martasek P, Ruzicka E, Winkelmann J.

Clin Genet · 2018-01-24

DOI: 10.1111/cge.13124PMID: 28862745

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation.

Madero-Pérez J, Fdez E, Fernández B, Lara Ordóñez AJ, Blanca Ramírez M, Gómez-Suaga P, Waschbüsch D, Lobbestael E, Baekelandt V, Nairn AC, Ruiz-Martínez J, Aiastui A, López de Munain A, Lis P, Comptdaer T, Taymans JM, Chartier-Harlin MC, Beilina A, Gonnelli A, Cookson MR, Greggio E, Hilfiker S.

Mol Neurodegener · 2018-01-23

DOI: 10.1186/s13024-018-0235-yPMID: 29357897

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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