Association of Single Nucleotide Polymorphism in MAOB and Risk of Levodopa-Induced Dyskinesias in Parkinson’s Disease
Objective: To identify genetic risk factors for developing levodopa-induced dyskinesias (LID) in patients with Parkinson’s disease (PD). Background: LID are common complications in PD, but…Neuroimaging studies in familial forms of Parkinson’s disease: A systematic review
Objective: We aim to systematically review the current status of MRI, PET and SPECT imaging in asymptomatic (aPD) and symptomatic (sPD) genetic carriers of PD.…Cognitive impairment in early onset and familial Parkinson’s disease.
Objective: The Parkinson’s Families Project (PFP) is a large-scale cohort of early onset (symptom onset <45) and familial Parkinson’s disease (PD) patients. One aim of…Spiral Analysis is a Promising Biomarker in LRRK2 G2019S carriers
Objective: To assess whether harboring a LRRK2 G2019S mutation is associated with abnormalities in spiral drawing, including in mutation carriers with Parkinson Disease (PD) as…SNCA multiplication consortium: Clinicogenetic analysis of SNCA multiplication probands and families.
Objective: Clinicogenetic analysis of 57 affected probands with SNCA multiplication, 3 unaffected carriers, and their 60 families. To use informative pedigrees to identify penetrance modifiers…A neuronal model of PARK20 (SYNJ1 mutation) using patient derived iPSCs
Objective: The SYNJ1 homozygous mutation (p.Arg258Gln) leads to juvenile Parkinsonism (PARK20). SYNJ1 plays an important role in synaptic vesicle cycling, and regulating autophagic flux. We…Mitochondrial DNA variants function as potential genetic risk factors for Parkinson disease
Objective: To understand whether mtDNA variants contribute to the susceptibility to sporadic PD. Background: It is well-recognized that mitochondrial (mt) dysfunction is involved in the…eEF1A2 promotes cell survival and protects against MPP+-induced apoptotic neuronal death through the PI3K/Akt/mTOR pathway
Objective: To assess the correlation of eEF1A2 and PI3K/Akt/mTOR expression and investigate the pro-survival role of eEF1A2 in NG108-15 rodent neuroglioma cells. Background: Eukaryotic protein…Association of the GBA T369M polymorphism with motor and cognitive symptoms in Parkinson’s disease
Objective: To determine whether the GBA polymorphism T369M is associated with earlier age of onset, lower cognitive performance, and more severe motor impairment in Parkinson's…How common are the genomic rearrangements among possibly autosomal recessive PD cases in Turkey?
Objective: In this study, we aimed to investigate the frequency and phenotypical features in a subset of early-onset Parkinson’s disease (EO-PD) (age-at-onset ≤45 years) patients due…