A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…Association of polygenic risk score of the LRRK2 gene for Parkinson’s disease with lysosomal hydrolase activities in the Russian Population based on genetic profile and established risk factors
Objective: To studied a previously proposed polygenic risk scores (PRSs) for PD selected for the LRRK2 gene in a genetic data set of Russian population…Genetic Study of polymorphism of cytokines in Parkinson’s disease.
Objective: The aim of our study was to conduct a cohort that demonstrates genetic variations in cytokines genes involved in the physiopathology, the development and…Comorbidities in genetic Parkinson’s Disease: comparison between LRRK2, GBA1, and non-mutated PD
Objective: To examine the occurrence of medical comorbidities associated with genetic form of Parkinson’s disease (GBA1-PD and LRRK2-PD) compared to a cohort of non-mutated PD…Expanding the PD GENEration Study to increase clinical genetic testing and counseling using whole genome sequencing among diverse Parkinson’s disease (PD) populations
Objective: To provide Clinical Laboratory Improvement Amendments (CLIA) genetic testing using whole genome sequencing and disclosure of 7 PD relevant genes and secondary health-related genetic…Genome-wide Survival Analysis Identified Association Between HS1BP3 and APOE loci and Dementia in Parkinson’s disease
Objective: We aim to conduct a genome-wide survival study (GWSS) to identify single nucleotide polymorphisms (SNP) associated with dementia in Parkinson’s disease (PD) with a…A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…Autosomal Recessive GTPCH Deficiency: Redefining the Phenotypic Spectrum and Outcome
Objective: To describe the clinical phenotype of autosomal recessive GTP cyclohydrolase deficiency (ARGTPCHD), its genetic and metabolic correlates, and their possible predictive value through a…Ionic Plasticity of Midbrain GABAergic Synapses in PD Models
Objective: To validate that enhancing potassium-chloride cotransporter activity would restore inhibition and normal function in parkinsonian Substantia nigra reticulata (SNr) and participate to Parkinson’s disease (PD) symptom alleviation. Background: The SNr is an output nucleus…
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