• Publications
  • Influence
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
TLDR
High-resolution recombination mapping and candidate gene sequencing in 46 families found six disease-segregating mutations in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2), which may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism. Expand
MDS clinical diagnostic criteria for Parkinson's disease
TLDR
The Movement Disorder Society PD Criteria retain motor parkinsonism as the core feature of the disease, defined as bradykinesia plus rest tremor or rigidity, and two levels of certainty are delineated: clinically established PD and probable PD. Expand
The ubiquitin pathway in Parkinson's disease
TLDR
It is shown that in a German family with Parkinson's disease a missense mutation in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene causes a partial loss of the catalytic activity of this thiol protease, which could lead to aberrations in the proteolytic pathway and aggregation of proteins. Expand
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
TLDR
A meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants found four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant. Expand
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
TLDR
It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided. Expand
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
TLDR
Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD, but this knowledge should be applied with caution in the diagnosis and counselling of patients. Expand
Association between early-onset Parkinson's disease and mutations in the parkin gene.
TLDR
Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-ONSet Parkinson's Disease and accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease. Expand
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
TLDR
Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations. Expand
The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
TLDR
The phenotypic spectrum and natural history of the disease in 102 affected individuals from 29 families with biopsy‐proven CADASIL were delineated, and the extent of disability in different age groups was studied. Expand
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
TLDR
These data provide an insight into the genetics of Parkinson's disease and the molecular cause of the disease and could provide future targets for therapies. Expand
...
1
2
3
4
5
...