𝔖 Bobbio Scriptorium
✦   LIBER   ✦

LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation

✍ Scribed by Connie Marras; Christine Klein; Anthony E. Lang; Yosuke Wakutani; Danielle Moreno; Christine Sato; Edwin Yip; Renato P. Munhoz; Katja Lohmann; Ana Djarmati; Andrew Bi; Ekaterina Rogaeva

Book ID
116781349
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
73 KB
Volume
31
Category
Article
ISSN
0197-4580

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Lack of G2019S LRRK2 mutation in a cohor
Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
✍ Hon-Chung Fung; Chiung-Mei Chen; John Hardy; Dena Hernandez; Andrew Singleton; Y 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

## Abstract Mutations in the leucine‐rich repeat kinase 2 (__LRRK2__) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycine‐to‐serine amino acid substitution at cod

Frequency and phenotypes of LRRK2 G2019S
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
✍ Roberta Marongiu; Daniele Ghezzi; Tamara Ialongo; Francesco Soleti; Antonio Elia 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only proba