Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease
โ Scribed by Saskia Biskup; Andrew B. West
- Book ID
- 116270692
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 250 KB
- Volume
- 1792
- Category
- Article
- ISSN
- 0925-4439
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## Abstract A heterozygous 2264CโT variant (P755L) in __LRRK2__ gene has been reported to be a likely pathogenic variant among ethnic Chinese patients with Parkinson's disease (PD). In a case control study, we performed genetic analysis of the P755L variant in an independent cohort of Chinese patie
## Abstract Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic __LRRK2__ mutation c.4309 A>C (p.Asn1437His) that coโsegregates with diseas
## Abstract An increasing number of nonsynonymous __LRRK2__ variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three caseโcontrol serie