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
✦ LIBER ✦
G2019S LRRK2 mutation in French and North African families with Parkinson's disease
✍ Scribed by Suzanne Lesage; Pablo Ibanez; Ebba Lohmann; Pierre Pollak; François Tison; Myriem Tazir; Anne-Louise Leutenegger; Joao Guimaraes; Anne-Marie Bonnet; Yves Agid; Alexandra Dürr; Alexis Brice
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 79 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Genetic and clinical identification of P
✍
Hao Deng; Weidong Le; Yi Guo; Christine B. Hunter; Wenjie Xie; Joseph Jankovic
📂
Article
📅
2005
🏛
John Wiley and Sons
🌐
English
⚖ 55 KB
👁 2 views
LRRK2 G2019S and I2020T mutations are no
✍
E. Lee; S. Hui; G. Ho; E.K. Tan; C.P. Chen
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 41 KB
Linkage exclusion in French families wit
✍
Matt Farrer; Alain Destée; Estelle Becquet; Fabienne Wavrant-De Vrièze; Vincent
📂
Article
📅
2000
🏛
John Wiley and Sons
🌐
English
⚖ 143 KB
PLA2G6 mutations in PARK14-linked young-
✍
Chin-Song Lu; Szu-Chia Lai; Ruey-Meei Wu; Yi-Hsin Weng; Chia-Ling Huang; Rou-Sha
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 458 KB
👁 2 views
## Abstract Mutations of __PLA2G6__ gene have been lately proposed to be the causative gene for PARK14 in patients with autosomal recessive young‐onset parkinsonism (YOPD). The role of __PLA2G6__ mutations as a risk factor for Parkinson's disease is not clear. To study the __PLA2G6__ mutations in P
Progressive supranuclear palsy and Parki
✍
Giacomina Rossi; Elisabetta Gasparoli; Claudio Pasquali; Giuseppe Di Fede; Danie
📂
Article
📅
2004
🏛
John Wiley and Sons
🌐
English
⚖ 193 KB
👁 1 views
APOE and other loci affect age-at-onset
✍
Ellen M. Wijsman; E. Warwick Daw; Xuesong Yu; Ellen J. Steinbart; David Nochlin;
📂
Article
📅
2004
🏛
John Wiley and Sons
🌐
English
⚖ 104 KB
👁 2 views