Pharmacogenomic Analysis of KM-819-Related Hepatotoxicity in Patients with Multiple System Atrophy
Objective: This study aimed to identify genetic risk factors linked to a drug candidate for MSA (KM-819)-associated drug-induced liver injury (DILI) in patients with multiple…Clinical Markers of Monogenic Mimics in Atypical Parkinsonism: Findings From a 150-Patient Series
Objective: We aimed to (1) define the yield and spectrum of genetic findings in an unselected Atypical Parkinsonism (AP) series and (2) identify clinical markers…Polygenic Risk Score-Based Phenome-Wide Association Study and Mendelian Randomization of Multiple System Atrophy in the UK
Objective: To construct a polygenic risk score (PRS) for Multiple system atrophy (MSA), investigate its associations with a broad range of phenotypes in the UK…Clinical Features of Multiple System Atrophy Across Diverse Populations: A Systematic Review of Subtypes and Diagnostic Frameworks
Objective: We aim 1) To describe the distribution of core clinical features of MSA, including age at onset, motor subtype, and cardinal symptoms, across global…Disease Characteristics of the First 100 Participants in the CurePSP Genetics Program Cohort
Objective: To increase our understanding of the pathogenesis of atypical parkinsonian disorders though genetics, and to build a cohort of individuals for future research. Background:…Analysis of the Association between SNCA Polymorphisms and the Risk of Multiple System Atrophy
Objective: To assess the impact of twenty-one single nucleotide polymorphisms (SNPs) located in different regulatory regions of the SNCA gene on the risk of developing…The Role of FGF14 GAA Repeat Expansions in Multiple System Atrophy: Frequency, Phenotypic Correlations, and Prognostic Implications
Objective: This study aimed to investigate the frequency of FGF14 GAA•TTC repeat expansion in clinically diagnosed and pathologically confirmed multiple system atrophy cases. Background: Partial…Pathogenic TBK1 Mutation Associated with Multiple System Atrophy-Like Phenotype
Objective: To report a novel case of an MSA-like phenotype in a patient with a pathogenic mutation in the TBK1 gene. Background: TANK-binding kinase 1…LRRK2 G2019S mutation in Multiple System Atrophy, a case report
Objective: Presenting a case of Multiple System Atrophy (MSA) confirmed by skin biopsy with a peculiar genetic profile. Background: MSA is a rare neurodegenerative disorder characterized…Heterozygous aprataxin gene mutation associated with atypical multiple system atrophy phenotype: a case report
Objective: We describe a 73-year old patient carrying a heterozygous mutation in aprataxin (APTX) gene presenting multiple system atrophy-parkinsonian variant (MSA-P). Background: Ataxia with oculomotor…
- 1
- 2
- 3
- 4
- Next Page »