Neuromelanin imaging is useful for monitoring disease progression in Parkinson’s disease and PARK2
Objective: Using neuromelanin (NM)-MRI, we analyzed whether disease severity and MF is associated with the degree of dopaminergic neuronal degeneration in the substantial nigra compacta…Heterozygous PINK1 p.G411S mutation increases risk for Parkinson’s disease (PD)
Objective: To investigate the possible disease-association and pathogenic mechanisms of heterozygous PINK1 mutations from a genetic, functional, and structural perspective. Background: It has been postulated…Mitochondrial Hsp90 inhibitor G-TTP triggers PINK1/parkin-dependent mitochondrial quality control
Objective: To characterize the response of cells treated with Gamitrinib-triphenylphosphonium (G-TTP) a mitochondrial targeted inhibitor of the chaperone Hsp90. Background: Upon dissipation of the mitochondrial…Work-related stress and risk for Parkinson’s disease
Objective: To explore the association between work-related stress (job control and job demands) and the risk for Parkinson's disease (PD). Background: Chronic stress is associated…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…
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