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…Short and long-term Impact of Covid-19 Pandemic on motor and non-motor symptoms in Leucine-rich repeat kinase2 (LRRK2) associated Parkinson’s disease
Objective: To determine short and long-term impact of COVID-19 on motor(MS) and non-motor(NMS) symptoms among Tunisian PD patients according to Leucine-rich repeat kinase2 (LRRK2)-carrying status.…Parkinson disease with LRRK2 mutation associated with upper motor neuron dysfunction
Objective: We report a patient with genetic Parkinson disease associated with upper motor neuron dysfunction. Background: Leucine-rich repeat kinase 2 (LRRK2) mutations have been extensively…LRRK2 Inhibition by BIIB122: Trial designs for two efficacy and safety studies in Parkinson’s disease patients with and without LRRK2 mutations (Lighthouse and Luma)
Objective: Describe Luma and Lighthouse, two studies that investigate efficacy and safety of BIIB122, a LRRK2 inhibitor. Background: Increased LRRK2 kinase activity has been linked…Longitudinal clinical and biomarkers characteristics of non-manifest LRRK2 G2019S carriers: The PPMI cohort
Objective: To examine 2-year longitudinal change in clinical, dopamine transporter (DAT) imaging and biofluid biomarkers in non-manifesting carriers (NMCs) of LRRK2 G2019S versus healthy controls…Mutational effects of LRRK2 I1371V in astrocytes derived from patient specific iPSCs
Objective: To identify the LRRK2 I1371V mutational effects on astroglial biology involving glutamate metabolism and glutathione machinery. Background: The underlying cause of most of the familial…Identification and functional characterization of genetic modifier of penetrance in G2019S LRRK2-associated Parkinson’s disease through family whole genome sequencing
Objective: Trait- or disease-associated genetic variants contribute to substantial variability and penetrance of complex traits and diseases in humans. Several causative genes and risk factors…
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