Temporal working memory deficit in Parkinson’s disease
Objective: To investigate whether temporal working memory (TWM) could be impacted in Parkinson's disease (PD). We also tested whether idiopathic PD patients (iPD) could be…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Voice harmonic amplitude differences before and after LSVT LOUDTM in Parkinson’s disease
Objective: To evaluate voice harmonic amplitudes from acoustic spectra of speech produced by subjects with Parkinson's disease (PD) before and after voice treatment, in order…Young-onset Parkinson’s disease in two siblings with compound heterozygosity for two rare parkin mutations
Objective: We report the clinical and genetic findings of two siblings who presented with early-onset Parkinson's disease (PD) and had two distinct parkin mutations, a…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…Investigation of mosaicism for copy number variants in PD brain
Objective: To investigate the presence of genetic mosaicism due to somatically acquired copy number variants (CNVs) affecting PD genes in PD brain. Background: The cause…Effects of subthalamic deep brain stimulation in motor and nonmotor function in Parkinson’s disease patients with parkin mutation
Objective: The aim of our study was to evaluate prospectively the changes in motor, nonmotor symptoms (NMS) and quality of life produced by subthalamic deep…Exome sequencing in the Czech patients with early-onset Parkinson’s disease
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson's disease (EOPD). Background: Currently, there are four…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…
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