What researchers published on Friedreich-ataxia
197 papers, newest first.
Showing 20 of 197
ÁttekintésMetabolic dysfunction in Friedreich ataxia.Open biology
Blood-Based Lipid Peroxidation and Ferroptosis-Related Markers in Friedreich's Ataxia.Movement disorders : official journal of the Movement Disorder Society
Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia.Annals of clinical and translational neurology
ÁttekintésOculomotor Phenomenology in Cerebellar Ataxias: A Video-Illustrated Practical Diagnostic Approach.Movement disorders clinical practice
Provider Perspectives on Friedreich Ataxia: A Cross-Sectional Survey to Assess Disease Familiarity and Decision-Making in the US.Degenerative neurological and neuromuscular disease
Efficacy and Safety of Omaveloxolone in Friedreich Ataxia: Real-World Data from an Advanced Disease Cohort.Movement disorders clinical practice
Intrinsic Activity Reductions and Cerebello-Cortical Diaschisis-Like Mechanism in Friedreich Ataxia: An fALFF Resting-State fMRI Study.Brain and behavior
Long-Term Experience in the Molecular Genetic Diagnosis of Friedreich Ataxia in the Russian Federation.Genes
ÁttekintésAtaxia Therapeutics: A Comprehensive Overview of the Clinical Development Pipeline.Pharmaceutical medicine
Glial-specific mitochondrial failure and redox imbalance contribute to regional vulnerability in Friedreich's ataxia.Redox biology
Cells heal themselves: gene-edited hematopoietic stem cells restore frataxin deficiency in multiple organs.The Journal of clinical investigation
Edited HSPCs rescue frataxin deficiency and inflammation-driven multisystemic pathology in Friedreich's ataxia mice.The Journal of clinical investigation
Mitochondrial dynamics and repair differences in two mouse models of Friedreich's ataxia.The Journal of physiology
Reduction of interleukin-6 levels in patients with Friedreich's Ataxia treated with omaveloxolone.Journal of the neurological sciences
ÁttekintésThe Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.Deutsches Arzteblatt international
ÁttekintésThe role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications
Nanopore sequencing combined with adaptive sampling and NanoExpansion enables accurate characterization of repeat expansion disorders.NAR genomics and bioinformatics
The cardiac calcium handling machinery is remodeled in Friedreich ataxia.Heart rhythm
PreprintCalcium dysregulation amplifies fibrotic responses to TGFβ in human Friedreich's ataxia fibroblasts.bioRxiv : the preprint server for biology
Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).Cerebellum (London, England)