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…Qualification of Digital Endpoints of Function in Healthy Volunteers for Use in a Decentralized Natural History Study in Genetic Parkinson’s Disease (PD)
Objective: Our goal was to qualify digital and wearable devices to assess the Timed Up and Go (TUG) test and gait related parameters in healthy…Profiling the biochemical lysosomal activities in blood of patients with LRRK2 G2019S associated Parkinson’s disease
Objective: To replicate the previous study of Alcalay and coauthors on estimation of lysosomal enzymes activities [1] with additional estimation of corresponding substrates in patients…Genetic contribution to domain specific cognitive decline
Objective: To assess differences in cognitive domains between patients with Parkinson’s disease with the LRRK2 and GBA risk mutations Background: Most patients with PD show…Association of a new pathogenic variant of LRRK2 with modifying lysosomal genes in a family with Parkinson’s disease
Objective: To characterize a Parkinson’s disease (PD) family with high recurrence of the disease. Background: Parkinson’s disease (PD) is a complex neurodegenerative disorder in which…Double trouble: Association of malignant melanoma with sporadic and genetic forms of Parkinson’s disease and asymptomatic carriers of related genes in the PPMI study.
Objective: The aim of the present study was to assess the prevalence of malignant melanoma (MM) in sporadic and genetic Parkinson’s disease (PD) patients and…Gene and variant curation of Parkinson’s disease genes by an authoritative expert panel
Objective: Establish an authoritative central curation for causative genes and variants for Parkinson’s disease (PD) Background: The urgency to establish central curation for causative genes…Analysis of bilateral subthalamic nucleus deep brain stimulation in patients with monogenic forms of Parkinson’s disease: PRKN and LRRK2
Objective: The aim of this study is to compare the clinical and pharmacological response of bilateral STN DBS in patients with monogenic forms of PD…
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