𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotype analysis in patients with early onset Parkinson’s disease with and withoutparkinmutations

✍ Scribed by Hee Jin Kim; Han-Joon Kim; Jee-Young Lee; Ji Young Yun; So Yeon Kim; Sung Sup Park; Beom S. Jeon

Publisher
Springer
Year
2011
Tongue
English
Weight
209 KB
Volume
258
Category
Article
ISSN
0340-5354

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotypic and phenotypic characteristics
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
✍ Maria G. Macedo; Dagmar Verbaan; Yue Fang; Stephanie M. van Rooden; Martine Viss 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB

## Abstract Early onset Parkinson's disease (EOPD) has been associated with mutations in the __Parkin__, __DJ‐1, PINK1, LRRK2,__ and __SNCA__ genes. The aim of this study is to assess the contribution of these genes in a Dutch EOPD cohort and the phenotypic characteristics of the mutation carriers.

Genotype–phenotype correlates in Taiwane
Genotype–phenotype correlates in Taiwanese patients with early-onset recessive parkinsonism
✍ Ming-Jen Lee; Ignacio F. Mata; Chin-Hsien Lin; Kai-Yuan Tzen; Sarah J. Lincoln; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 438 KB

## Abstract We screened for mutations in the __PARKIN__, __DJ‐1__, and __PINK1__ genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early‐onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in __PARKIN__ (three compound heterozygou

Novel parkin mutations detected in patie
Novel parkin mutations detected in patients with early-onset Parkinson's disease
✍ Aida M. Bertoli-Avella; José L. Giroud-Benitez; Ali Akyol; Egberto Barbosa; Onno 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB

## Abstract A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of __parkin__/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relat

Genetic and environmental findings in ea
Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients
✍ Patricia de Carvalho Aguiar; Patricia Silva Lessa; Clecio Godeiro Junior; Orland 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB 👁 1 views

## Abstract Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early‐onset PD (EOPD) patients for mutations in __PARK2__ and __PARK8__, exposure to environmental factors and possible correlations between __PARK2_

ATP13A2 variants in early-onset Parkinso
ATP13A2 variants in early-onset Parkinson's disease patients and controls
✍ Ana Djarmati; Johann Hagenah; Kathrin Reetz; Susen Winkler; Maria Isabel Behrens 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

## Abstract Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered __ATP13A2__ (__PARK9__) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively s