Preliminary findings of MR imaging of the entire spinal cord in Friedreich’s ataxia
Objective: To evaluate abnormalities in the entire spinal cord in patients with Friedreich's ataxia (FRDA) compared to healthy controls using magnetic resonance imaging (MRI) and…A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India
Objective: To study phenotype and Quality of life determinant in patients with SCA-12. Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant,…Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)
Objective: To investigate the potential of nine candidate genes as transcriptional biomarkers of asymptomatic and symptomatic stages of spinocerebellar ataxia type 3 (SCA3). Background: An…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…
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