Genetic profile of early-onset Parkinson’s Disease patients at a movement disorders center in Brazil
Objective: This study aimed to identify the genetic landscape of early-onset Parkinson’s Disease (EOPD) in a cohort from a referral center in Brazil. Background: Parkinson’s…monogenic parkinsonism in latin america: systematic review and meta-analysis
Objective: This study aims to assess the frequency, distribution and the minimum prevalence of monogenic Parkinsonism in Latin America (LA) Background: The prevalence of monogenic…Oculomotor changes in the premotor stage of LRRK2- G2019S associated Parkinson’s disease.
Objective: To analyse oculomotor differences among idiopathic PD patients (iPD), LRRK2-G2019S PD patients (LRRK2-G2019S PD), asymptomatic carriers of LRRK2-G2019S mutation (AsG2019S), and controls, evaluated by…LRRK2 G2019S promotes astrocytic inflammatory response induced by oligomeric α-synuclein through NF-κB pathway
Objective: Analyzing the mechanism of inflammatory response induced by oligomeric α-synuclein (O-αS) in LRRK2 G2019S mutation astrocytes to provide new targets and ideas for the…Development of potent, orally bioavailable, and highly selective LRRK2 PROTAC® degrader molecules as potential disease modifying therapeutics for Parkinson’s disease
Objective: Report on the pharmacological characteristics of small molecule PROteolysis TArgeting Chimera (PROTAC) molecules designed to induce degradation of leucine rich repeat kinase 2 (LRRK2)…monogenic parkinson´s disease in a chilean cohort
Objective: To describe the minimum prevalence and distribution of monogenic forms of PD in a chilean cohort Background: About 3–5% of Parkinson’s disease (PD) patients…Caveats regarding a family with PD and LRRK2 mutations
Objective: To describe and discuss genetic considerations regarding a kindred with PD cases with similar clinical characteristics, some with identified mutations in the LRRK2 gene…Caffeine Intake Interacts with Gene Variants in Parkinson’s disease
Objective: We investigate interactions of caffeine intake with PD risk variants and determine PD risk estimates in caffeine-drinkers carrying these variants. Background: Caffeine intake reduces…Assessment of variation in α-synuclein seed amplification assay results in the PPMI cohort: Association with hyposmia
Objective: To understand molecular heterogeneity among Parkinson’s disease (PD) patients, and controls based on α-synuclein seed amplification assay (SAA) results. Background: α-synuclein seed amplification assay…Glucocerebrosidase (GCase) activator, Ambroxol, reduces alpha-synuclein serine-129 phosphorylation and oligomers in mutant LRRK2 R1441G mouse brains
Objective: To explore whether inducing brain GCase activity by Ambroxol™ (ABX; a brain-penetrant GCase activator) can reduce a-synuclein (αSyn) serine-129 phosphorylation and oligomer accumulation in…
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