𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Parkinson's Disease: The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics

✍ Scribed by Bonifati, Vincenzo

Book ID
110026696
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
56 KB
Volume
14
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Genetic and clinical identification of P
Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation
✍ Hao Deng; Weidong Le; Yi Guo; Christine B. Hunter; Wenjie Xie; Joseph Jankovic πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 3 views

genes and who were found to be negative. 1 In this group of 122 patients, we identified 5 patients with an FMR1 premutation and in 4 of them a definite diagnosis of fragile Xassociated tremor/ataxia syndrome (FXTAS) could be made, based on the proposed diagnostic criteria for FXTAS. We proposed base

G2019S LRRK2 mutation in familial and sp
G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia
✍ Sofya N. Pchelina; Andrei F. Yakimovskii; Olga N. Ivanova; Anton K. Emelianov; A πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 80 KB

## Abstract Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine‐rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwester

MAPK-pathway activity, Lrrk2 G2019S, and
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
✍ Linda R. White; Mathias Toft; Sylvia N. Kvam; Matthew J. Farrer; Jan O. Aasly πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 238 KB

## Abstract The __6055G>A__ mutation in the __leucine‐rich repeat kinase 2__ (__LRRK2__) gene results in a G2019S substitution in the mixed‐lineage kinase domain of Lrrk2, causing autosomal dominant Parkinson's disease (PD). We hypothesized the mutation alters cellular mitogen‐activated protein kin