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diagnosis of genetic ataxias in adulthood protocol for a systematic review
Original title: “Diagnosis of genetic ataxias in adulthood: protocol for a systematic review.”
drug repurposing in hereditary ataxia
Original title: “Drug repurposing in hereditary ataxia.”
ataxias as an example of rare diseases diagnosis genetics and treatment
Original title: “The Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.”
large scale genetic profiling of hereditary ataxias in china implications for a stepwise molecular diagnostic strategy
Original title: “Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.”
neurological disease progression in adults with ataxia telangiectasia a longitudinal study
Original title: “Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.”
neurological effects of encapsulated dexamethasone sodium phosphate in children aged 6 9 years with ataxia telangiectasia neat a multicentre randomised double blind placebo controlled phase 3 trial
Original title: “Neurological effects of encapsulated dexamethasone sodium phosphate in children aged 6-9 years with ataxia telangiectasia (NEAT): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.”
mri end points for clinical trials in ataxias recommendations from the ataxia global initiative mri biomarkers working group
Original title: “MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.”
long term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the fgf14 gaa expansion
Original title: “Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.”
Hydrocephalus. Ataxia. Dandy-Walker syndrome. Agenesis of the corpus callosum. Hypotonia. Macrocephaly. Cortical visual impairment. Global developmental delay. Failure to thrive. Unilateral Renal hypoplasia. Congenital inguinal… Continue reading Acceptance without Answers We were referred to the undiagnosed diseases network when he was a toddler. This time, we would finally figure out why our son was facing so many challenges, right? Nope; not yet at least.
Original title: “Acceptance without Answers - Rare Disease Day 2026”
genotype and age at onset drive vermis atrophy in cacna1a and gaa fgf14 related ataxias
Original title: “Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.”
targeting the fnip2 serca2b axis improves metabolic and mitochondrial defects in ataxia telangiectasia
Original title: “Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia.”