Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression
Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective
Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…Cerebellar Ataxia case series study from southern Spain: Clinical and molecular description
Objective: Describe clinical features of a Cerebellar Ataxia non-Friedreich case series from southern Spain, and their molecular diagnosis. Background: Cerebellar Ataxias are a highly heterogeneous…Comorbid Pediatric Early Onset Ataxia and Dystonia – Is the Cerebellum Involved?
Objective: In children with Early Onset Ataxia (EOA), we aimed to determine the prevalence of comorbid dystonia and to explore the pathogenesis by the shared…A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients
Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…Antisense FMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Objective: To determine the role of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of FMR1 AGG interspersions and…Genotype-phenotype correlations in 104 Uzbekish families with Spinocerebellar ataxias
Objective: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with…Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report
Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…
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