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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
(2011)
Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's ...
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population
(2014)
Background and purpose Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic ...
Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
(2007)
Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no ...
Investigation of Unmedicated Early Onset Restless Legs Syndrome by Voxel-Based Morphometry, T2 Relaxometry, and Functional MR Imaging during the Night-Time Hours
(2012)
BACKGROUND AND PURPOSE: The pathophysiology of eRLS has not yet been elucidated. The purpose of the study was to assess, in patients with eRLS, the volume, iron content, and activation of the brain during night-time episodes ...
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
(2000)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ...