Blood glucose homeostasis is conserved in patients with mild to moderate Spinocerebellar Ataxia type 2
Objective: To explore novel molecular biomarker candidates for SCA2, based on the assessment of blood glucose homeostasis. Background: Spinocerebellar ataxia type 2 (SCA2) is a…GSTM1 and GSTT1 null genotypes as candidate modifiers of clinical severity and genomic instability in Cuban patients with Spinocerebellar Ataxia type 2
Objective: To assess the impact of the GSTM1 and GSTT1 null genotypes on clinical severity and genomic instability in a large cohort of patients with…Genetic modifiers of the clinical phenotype in Spinocerebellar Ataxia type 2. 25 years of candidate genes studies and the forthcoming GWAS era
Objective: To provide a critical review the state of the art on the search for modifier genes for disease severity of SCA2. Background: Spinocerebellar ataxia…Accessible Assessment of Ataxia Severity Across Diverse Populations: Integrating Large Datasets, Machine-Learning, and Online Testing
Objective: To explore whether internet-based assessments combined with machine learning approaches can support scalable characterization of ataxia severity. Background: In-person assessments of ataxia severity are…Enteric Alpha-Synuclein Pathology in Early-Onset Parkinson’s Disease and an Incidental Case in Spinocerebellar Ataxia Type 6
Objective: This study aimed to investigate Alpha-synuclein (AS) accumulation in the gastrointestinal (GI) tract of patients with early-onset PD (EOPD). Background: AS accumulation is found…Disease Burden Profile of Patients with Spinocerebellar Ataxia in China: A Real-World Registry Study (2025)
Objective: To analyze the clinical characteristics, diagnostic pathways, and socioeconomic impact on newly registered SCA patients in China during the year 2025. Background: Spinocerebellar ataxia…Genotype-Specific Risk Factors for Falls in Spinocerebellar Ataxia: A Cross-Sectional Analysis of SCA1, SCA2, SCA3, and SCA6
Objective: To determine fall prevalence and identify predictors of fall risk across SCA1, SCA2, SCA3, and SCA6. Background: Falls represent a major source of morbidity in spinocerebellar…Investigating Mitochondrial Integrity in Spinocerebellar Ataxia Type 12 via Patient-Derived iPSC Models
Objective: This study aims to establish patient-derived induced pluripotent stem cell (iPSC) models of Spinocerebellar Ataxia Type 12 (SCA12) and investigate mitochondrial transcriptional alterations across…Determinants of depression severity in patients of Spinocerebellar ataxia 12
Objective: To evaluate clinical and radiological co-relates of depression in Spinocerebellar ataxia -12 Background: Spinocerebellar ataxia type 12 (SCA12), caused by a CAG repeat expansion…Triplet repeat length determines the liquid-liquid phase separation propensity of single-dtranded DNA
Objective: To determine whether CAG trinucleotide repeat number intrinsically governs liquid-liquid phase separation (LLPS) of single-stranded DNA (ssDNA). Background: LLPS has emerged as a fundamental…
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