Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene
Objective: To characterize the phenotype and biochemical abnormalities associated with the R467X mutation in the SLCA20A2 gene. Background: Mutations in the SLC20A2 gene are the…Efficacy of miglustat in Korean patients with Niemann-Pick disease type C
Objective: The first two Korean patients in siblings of adolescent/adult onset NP-C were evaluated for the efficacy of miglustat. Background: Niemann-Pick disease type C (NP-C)…Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes
Objective: We aimed to document the alterations of pathways and molecules that underlie brain pathology in the Perrault syndrome. Background: Perrault syndrome is an autosomal…SPG7 related spastic ataxia differs according to the presence of the A510V variant
Objective: To characterize phenotype-genotype correlation in patients with two SPG7 variants, supported by a post mortem study. Background: The SPG7 gene was the first identified…Induced pluripotent stem cells based in-vitro modelling of Spinocerebellar Ataxia type -12 (SCA-12).
Objective: To derive neuronal lineages from patient’s peripheral blood mononuclear cells (PBMCs) and exploration of disease biology. Background: Spinocerebellar ataxia type-12 (SCA-12) is a progressive cerebellar…Quantitative evaluation of gait ataxia by triaxial accelerometers is more sensitive than SARA within 1.5 years.
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…Blink reflex recovery cycle in patients with genetically determined ataxias
Objective: To investigate the R2 blink reflex recovery cycle (BRRC) in genetically determined ataxias such as spinocerebellar ataxia (SCA), ataxia telangiectasia (AT) and Friedreich"s ataxia…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…SPG7-related ataxia in the Irish National Ataxia Clinic cohort: case series
Objective: To present comprehensive clinical, optical coherence tomography (OCT) and genetic findings on SPG7 –related cohort attending the National Ataxia Clinic in Ireland. Background: Hereditary…Potential preclinical gait and balance markers for developing Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Objective: To conduct gait and balance “stress” tests including those with dual task (DT) cognitive interference which we hypothesized would reveal early motor impairments in…
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