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…The influence of GBA and LRRK2 on mood disorders in Parkinson’s Disease
Objective: To assess the influence of mutations in the LRRK2 and GBA genes on mood disorders among patients with Parkinson's disease (PD) Background: Mood disorders…Genetics Of Parkinson’s in India – Young Onset Parkinson’s Disease (GOPI-YOPD) : Genetics of Juvenile, Young and Early Onset Parkinson’s Disease
Objective: To determine the genetic and demographic patterns of juvenile-onset (JOPD, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease…Clinical phenotype of non-manifesting carriers of mutations in the GBA and LRRK2 genes
Objective: To explore the influence of carrying mutations in both the GBA and LRRK2 genes (dual mutation carriers) on risk for future development of Parkinson's…Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations
Objective: To systematically examine the Columbia University LRRK2 brain bank for TDP-43 deposits Background: LRRK2 G2019S mutations have been associated with parkinsonism and a wide range of…The mitochondrial risk score and lifestyle factors are associated with age at onset in LRRK2 p.Gly2019Ser Parkinson’s disease.
Objective: To investigate the relationship between a mitochondrial risk score (MRS), lifestyle and age at onset (AAO) in LRRK2 G2019S Parkinson’s disease (PD). Background: PD…A case with clinical features of alpha-synuclein- and tauopathy: Genetic and histopathological workup.
Objective: Here, we present a clinical case that mimicked the coincidence of idiopathic Parkinson’s disease (PD) and tauopathy. Background: Mutation in leucine-rich-repeat-kinase 2 (LRRK2) gene…
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