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Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
Mov Disord Clin Pract. 2023 Mar 7;10(4):664-669. doi: 10.1002/mdc3.13699. eCollection 2023 Apr.
Mov Disord Clin Pract. 2023.
PMID: 37070044
Free PMC article.
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A; French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC).
Lesage S, et al.
Neurol Genet. 2015 Jun 18;1(1):e9. doi: 10.1212/NXG.0000000000000009. eCollection 2015 Jun.
Neurol Genet. 2015.
PMID: 27066548
Free PMC article.
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