✦ LIBER ✦

Frequency of theLRRK2G2019S mutation in Italian patients affected by Parkinson's disease

✍ Scribed by Tiziana Squillaro; Franca Cambi; Giuseppe Ciacci; Simone Rossi; Monica Ulivelli; Alessandro Malandrini; Maria Antonietta Mencarelli; Francesca Mari; Alessandra Renieri; Francesca Ariani

Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 136 KB
Volume: 52
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s10038-006-0105-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

TheLRRK2G2019S mutation as the cause of

TheLRRK2G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews

✍ Avner Thaler; Elissa Ash; Ziv Gan-Or; Avi Orr-Urtreger; Nir Giladi 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 218 KB

LRRK2G2019S mutation: frequency and hapl

LRRK2G2019S mutation: frequency and haplotype data in South African Parkinson’s disease patients

✍ Soraya Bardien; Angelica Marsberg; Rowena Keyser; Debbie Lombard; Suzanne Lesage 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 270 KB

Ashkenazi Parkinson’s disease patients w

Ashkenazi Parkinson’s disease patients with theLRRK2G2019S mutation share a common founder dating from the second to fifth centuries

✍ Anat Bar-Shira; Carolyn M. Hutter; Nir Giladi; Cyrus P. Zabetian; Avi Orr-Urtreg 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 111 KB

High frequency and reduced penetrance of

High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain)

✍ María Sierra; Isabel González-Aramburu; Pascual Sánchez-Juan; Coro Sánchez-Quint 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB

## Abstract The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson disease (PD) populations. This information is essential both for clinical purposes and genetic counseling. The objective of this study was to estimate the prevalence and penetrance of th

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 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 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