Frontlight ResearchEarly access
What researchers published on Friedreich ataxia
560 papers, newest first.
Showing 100 of 560
ReviewMetabolic 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
ReviewOculomotor 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
ReviewAtaxia 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
ReviewThe Ataxias as an Example of Rare Diseases: Diagnosis, Genetics, and Treatment.Deutsches Arzteblatt international
ReviewThe 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)
Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia.Movement disorders : official journal of the Movement Disorder Society
ReviewAutosomal recessive cerebellar ataxia: What have we learnt in the last 30 years?Revue neurologique
ReviewFriedreich Ataxia: From Genetics to Mechanism to Clinical Features.Annual review of pathology
Myeloid cell replacement induces intercellular mitochondrial transfer and restores metabolism in a mouse model of mitochondrial disease.Nature communications
Serial assessment of echocardiographic measures in Friedreich ataxia.American heart journal plus : cardiology research and practice
Convergent validity, responsiveness, and meaningful within-subject change of the PROM-Ataxia in spinocerebellar ataxias.Journal of neurology
ReviewPredicting disease progression in progressive cerebellar ataxias: integrating clinical, imaging, fluid, genetic, and digital biomarkers.Frontiers in neurology
Case reportHearing Aid Benefit in Auditory Neuropathy Due to Friedreich Ataxia: A Case Report.Journal of speech, language, and hearing research : JSLHR
Therapeutic potential of the Nrf2 activator omaveloxolone in spinocerebellar ataxia type 3 in cellular and Drosophila models.Frontiers in pharmacology
The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.Cerebellum (London, England)
Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.Annals of pediatric cardiology
ReviewAutophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias.Cells
Visual Pathways Involvement in Friedreich's Ataxia Patients Without Macular Impairment.Journal of clinical medicine
Physiologically Regulated Frataxin Gene Replacement Restores Neurological Function in a Mouse Model of Friedreich Ataxia.Human gene therapy
Impaired Glur2 palmitoylation in cerebellar Purkinje cells of a Friedreich ataxia mouse model.Experimental neurology
ReviewPediatric Ataxia and Emerging Treatments.Pediatric neurology
BRD4 recruitment into HP1 condensates desilences transcription without erasure of repressive chromatin.Nature cell biology
Limiting intestinal iron absorption rescues glial defects and extends lifespan in a Drosophila model of Friedreich's ataxia.Neurobiology of disease
ReviewEvolution of Friedreich's Ataxia Management Across Established and Emerging Therapies-Systematic Review and Meta-Analysis.Journal of clinical medicine
Unlocking Sulforaphane's Potential in Friedreich Ataxia: Further Evidence from Preclinical Investigations Using Induced Pluripotent Stem Cell-Derived Sensory Neurons.Antioxidants & redox signaling
ReviewCRISPR-Cas9-based therapies for Huntington's disease and Friedreich's ataxia: mechanisms, advances, and future perspectives.Neurogenetics
Case reportStem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression.Annals of clinical and translational neurology
Access to specialist ataxia centres in Europe: cross-sectional surveys in the United Kingdom, Italy, and Germany.Frontiers in health services
Systematic reviewKey Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review.Movement disorders : official journal of the Movement Disorder Society
In plain wordsRead moreRead the paper on PubMedDysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: In vitro and in vivo insights into therapeutic targeting.iScience
ReviewAdvances in Gene and Cellular Therapy in Friedreich Ataxia.Molecular diagnosis & therapy
Observational studyTrends and Disparities in Mortality from Hereditary Ataxia in United States, 2000-2020: A Retrospective Analysis with Projections to 2050.Cerebellum (London, England)
Observational studyImpact of Omaveloxolone on Serum Lipids in Patients with Friedreich Ataxia: A 1-Year Real-World Analysis.CNS drugs
Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.Cerebellum (London, England)
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model.Cell death & disease
Trial resultAAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial.JAMA cardiology
Observational studyCerebellar cognitive-affective syndrome in Friedreich Ataxia.Journal of neurology
Meta-analysisGenetic modifiers of Friedreich's ataxia pathophysiology in Drosophila melanogaster - A systematic review and meta-analysis.Free radical biology & medicine
In plain wordsRead moreRead the paper on PubMedReviewEpigenetic reactivation in Friedreich's ataxia from benzamides to gene‑targeted chimeras.Expert opinion on drug discovery
Friedreich's ataxia patient pathway in Europe.Frontiers in health services
Frataxin Expression in Sensory Neurons Is Required for Muscle Spindle Function and Proprioception.Muscle & nerve
Domain Adaptation for IMU Data to Enhance Objective Assessment of Friedreich Ataxia.IEEE journal of biomedical and health informatics
FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.Human molecular genetics
Observational studyAssessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.Journal of neuromuscular diseases
Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia.Cell chemical biology
Anodal cerebellar tDCS does not alter beta oscillations or corticokinematic coherence in Friedreich's ataxia and healthy participants.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Autophagy activation by urolithin-a derivative UA-36 mitigates Friedreich's ataxia pathologies induced by frataxin deficiency.Molecular biomedicine
ReviewMRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.Nature reviews. Neurology
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions.Annals of clinical and translational neurology
ReviewSlowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia.BMJ neurology open
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.Cerebellum (London, England)
Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis.Neurological research and practice
Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia.Molecular therapy. Advances
A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia.Histology and histopathology
ReviewRecent developments in Friedreich's ataxia: a state-of-the-art review.Brain communications
ReviewTargeting competitive Fe-S regulation to treat Friedreich's ataxia.Trends in pharmacological sciences
Neurophysiological assessment of disease severity in Friedreich's Ataxia: a study of brainstem auditory and visual evoked potentials.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models.Cell reports. Medicine
Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia.Scientific reports
Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich's ataxia.Molecular cell
Meta-analysisPharmacological treatments for Friedreich ataxia.The Cochrane database of systematic reviews
In plain wordsRead moreRead the paper on PubMedModeling Friedreich's ataxia with Bergmann glia-enriched human cerebellar organoids.Communications biology
Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling.Clinical and translational science
Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia.Cerebellum (London, England)
The TRKB Agonist 7,8-dihydroxyflavone Alleviates DNA Damage and Apoptosis in a Neuronal Cell Model of Friedreich's Ataxia.Molecular neurobiology
Randomised trialSafety and efficacy of individualised exercise and NAD+ precursor supplementation in patients with Friedreich's ataxia in the USA: a single-centre, 2 × 2 factorial, randomised controlled trial.The Lancet. Neurology
In plain wordsRead moreRead the paper on PubMedTargeting exercise, energy, or both in Friedreich's ataxia.The Lancet. Neurology
Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia.Journal of patient-reported outcomes
Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.Journal of neurology
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.BMJ neurology open
PreprintFriedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis.bioRxiv : the preprint server for biology
Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.Stem cell research
Fronto-cerebellar connectivity disruptions and functional reorganization in Friedreich's Ataxia: A structural and resting-state fMRI study.NeuroImage
Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy.NeuroImage. Clinical
Case reportAdvanced Heart Failure in Friedreich's Ataxia: A Story of Challenges, Opportunities, and Hope.JACC. Case reports
ReviewDeciphering the missing links between Friedreich ataxia and multiple sclerosis for targeted drug development.Drug discovery today
ReviewThe multifaceted nature of Friedreich ataxia: strategies for comprehensive patient care.Neurodegenerative disease management
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning.Radiology
An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK.Movement disorders clinical practice
Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report.Clinical case reports
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.Journal of translational medicine
CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats.BMC genomics
Review[Trinucleotide repeat disorders].Radiologie (Heidelberg, Germany)
Review[Friedreich's ataxia: The most common autosomal recessive inherited ataxia].MMW Fortschritte der Medizin
Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich's ataxia.Mitochondrion