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Large-scale replication and heterogeneity in Parkinson disease genetic loci
(2012)
Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)
The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
(2011)
Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...
Genetic and molecular pathogenesis of Parkinson's disease
(2006)
Parkinson's disease (PD), a common progressive degenerative disease of the central nervous system, affects about 1% of adults aged older than 60 years. PD is characterized by rigidity, tremor, postural instability and ...
MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease
(2011)
Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...
Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
(2014)
Background: The purpose of this study was to investigate plasma homocysteine levels and polymorphisms in genes encoding enzymes in the metabolic pathway of homocysteine in association with primary open-angle glaucoma (POAG) ...
Validation of the Augmentation Severity Rating Scale (ASRS): A multicentric, prospective study with levodopa on restless legs syndrome
(2007)
Background: Augmentation is the main complication during long-term dopaminergic treatment of restless legs syndrome (RLS) and reflects an overall increase in RLS severity. Its severity varies considerably from a minor ...
Role of endoscopic third ventriculostomy in treatment of selected patients with normal pressure hydrocephalus
(2012)
Objective: The purpose of our study was to evaluate the results of endoscopic third ventriculostomy (ETV) in the management of patients with idiopathic normal pressure hydrocephalus (INPH). Methods: Our prospective study ...
Brain MRI and proton MRS findings in infants and children with respiratory chain defects
(2005)
Objective: The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess ...