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…Evaluation of α-synuclein pathology and function in dopaminergic neurons derived from LRRK2 I1371V PD patient iPSCs
Objective: To evaluate cellular pathogenesis in DA neuron function, and α-synuclein pathology using LRRK2-I1371V PD iPSC. Background: It is reported for complex-neurodegenerative disorders like PD,…Sensor-based gait analysis in the premotor stage of LRRK2 G2019S-associated Parkinson’s disease
Objective: To evaluate in a group of asymptomatic carriers of the G2019S mutation of the LRRK2 gene if there are subclinical gait alterations, detectable with…
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