Assessment of GCA repeat expansion in the GLS gene among Indian patients with Spinocerebellar Ataxia
Objective: Spinocerebellar ataxia (SCA) is a group of neurodegenerative disorders. More than 40 microsatellite repeat loci have been associated with ataxia. The GCA repeat expansion…Genetic spectrum of spinocerebellar ataxia type 27b (atx-fgf14-gaa): a single-center study
Objective: To describe the genetic spectrum of (GAA)n-expansions in the FGF14 gene (size and structural repeats) associated with SCA27B in Slavic patients. Background: The genetic…Midbrain Organoid Modeling and Transcriptomic Characterization of NOTCH2NLC GGC Repeat Expansion–Associated Parkinson’s Disease
Objective: To characterize transcriptomic alterations in patient-derived midbrain organoids carrying NOTCH2NLC GGC repeat expansions and assess their relevance to canonical Parkinson's disease (PD) mechanisms. Background:…Ntng2 Associated Neurodevelopmental Disorder A Recognisable Syndrome With Stereotypies
Objective: In this study,we wish to present the case of two siblings whom we have been monitoring for neurodevelopmental delay,who exhibit stereotypical and dyskinetic movements,and…Adult hippocampal neurogenesis and cognitive and neuropsychiatric symptoms in Parkinson’s disease: the MemHiN study
Objective: To examine associations between serum-derived adult hippocampal neurogenesis (AHN)1 markers and cognitive and neuropsychiatric symptoms in Parkinson’s disease (PD), and to explore whether a…Establishing the Ukrainian Parkinson’s Disease Cohort within GP2: Early Results from the UPGRADE-PD Initiative
Objective: To describe the early establishment and recruitment outcomes of the Ukrainian Parkinson’s disease cohort within the Global Parkinson’s Genetics Program (GP2). Background: Eastern European…Comprehensive large-scale analysis of gene-environment interactions in Parkinson’s disease
Objective: This study aims to comprehensively explore the gene-environment interactions in PD using the large-scale UK Biobank dataset. Background: Parkinson's disease (PD) is a neurodegenerative…Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations
Objective: The influence of genetics has been primarily studied in European populations, limiting our understanding of the genetic landscape of PD in the African and…Alterations in gut microbiota composition in VPS35 associated PARK17 mouse model
Objective: This study explores whether host genetics such as specific VPS35 genetic variations linked to PD can shape the gut microbiome. Background: Heterozygous (D620N) mutation…Therapeutic Efficacy of Human Dental Pulp Stem Cells-Derived Exosome-Encased Phloroglucinol In MPTP-Induced Chronic Parkinsonian Rat model: Potential for Disease Modification
Objective: This study aimed to evaluate the therapeutic efficacy of intranasally administered exosome-encased phloroglucinol (Exo-Phl) in a MPTP rat model of PD. Background: Dopaminergic (DA)…
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