FBOX07 mutation with juvenile parkinsonism and behavioral disorders
Objective: FBX07 (PARK15) mutations cause juvenile parkinsonism with autosomal ressesive inheritance. Juvenile parkinsonism, pyramidal tract signs and atypical symptoms such as dystonia, chorea, behavioral disturbances,…Reduced thalamo-cortical functional connectivity in asymptomatic LRRK2 mutation carriers
Objective: To characterize MRI functional patterns during resting state in asymptomatic LRRK2 mutation carriers. Background: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are…Phenotypic characteristics in GBA-associated Parkinson’s disease (PD): A study in a Greek population
Objective: To evaluate whether there are distinct motor and non-motor symptom characteristics in GBA-associated PD (GBA-PD) in a Greek population. Background: Mutations in the GBA1…In utero delivery of scAAV9 mediates widespread brain transduction in rats and monkeys: Towards new models of Parkinson’s disease
Objective: Our objective was to create transgenic mammals using systemic delivery of adeno-associated virus serotype 9 (AAV2/9). Background: The adeno-associated virus serotype 9 (AAV2/9) crosses…Response to thermal and pain stimulation and genetic variance for pain in patients with Parkinson’s disease – Are they all related?
Objective: To examine whether there is a connection between clinical findings, genetics and QST data of Parkinson's disease(PD) patients and to characterize the genetic mechanisms…No RAB39B gene mutations in Chinese familial Parkinson’s disease
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population. Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been…Relationship between Alzheimer’s disease GWAS-linked top hits and risk of Parkinson’s disease with or without cognitive decline: A Chinese population-based study
Objective: We performed a case-control study in Chinese population to evaluate the association of AD genome-wide association study (GWAS) -linked top hits with both PD…Association of four new candidate genetic variants with Parkinson’s disease in Han Chinese
Objective: A recent large-scale meta-analysis of genome-wide association data in Europe has identified and replicated 28 loci for Parkinson's disease (PD) including 6 new risk…Roles of combined functional catechol-o-methyltransferase genotypes in Chinese Parkinson’s disease: A cross-sectional survey
Objective: To investigate the association of the most common functional catechol-O-methyltransferase (COMT) gene haplotypes with risk to develop of Parkinson's disease (PD) and the association…Inflammatory profile discriminates clinical subtypes in LRRK2-associated PD
Objective: To evaluate whether inflammatory processes in PD patients with mutations in the LRRK2 gene (PD-LRRK2) are associated with modification of clinical features and disease…