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Lrrk2pathogenic substitutions in Parkinson's disease

✍ Scribed by Ignacio F. Mata; Jennifer M. Kachergus; Julie P. Taylor; Sarah Lincoln; Jan Aasly; Timothy Lynch; Mary M. Hulihan; Stephanie A. Cobb; Ruey-Meei Wu; Chin-Song Lu; Carlos Lahoz; Zbigniew K. Wszolek; Matthew J. Farrer


Book ID
106257103
Publisher
Springer
Year
2005
Tongue
English
Weight
415 KB
Volume
6
Category
Article
ISSN
1364-6745

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Pathogenicity of the Lrrk2 R1514Q substi
✍ Mathias Toft; Ignacio F. Mata; Owen A. Ross; Jennifer Kachergus; Mary M. Hulihan πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 92 KB

## 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 case–control serie

Novel pathogenic LRRK2 p.Asn1437His subs
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## 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 co‐segregates with diseas

R1514Q substitution in Lrrk2 is not a pa
✍ William C. Nichols; Diane K. Marek; Michael W. Pauciulo; Nathan Pankratz; Cheryl πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 66 KB

## Abstract Mutations in __LRRK2__ were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen __LRRK2__ substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A)

Pathogenicity of LRRK2 P755L variant in
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## Abstract A heterozygous 2264C→T 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

LRRK2 variation and Parkinson's disease
✍ Owen A. Ross; Greggory J. Wilhoite; Justin A. Bacon; Alexandra Soto-Ortolaza; Je πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 639 KB

## Abstract The global impact of __LRRK2__ mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common __LRRK2__ variants by complete exon sequencing in a series of publicly available