• A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)
• A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia
• A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models
• AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons
• AAV gene therapy to treat Friedreich's ataxia cardiomyopathy
• AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia
• Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity
• Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions
• Aging, Neurodegenerative Disorders, and Cerebellum
• An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia
• An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
• An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
• Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model
• Approval of omaveloxolone for Friedreich ataxia
• Ataxia
• Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients
• Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia
• Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
• Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia
• Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases
• Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
• Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia
• Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
• Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia
• Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
• Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX)
• DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia
• Effect of Itraconazole, a CYP3A4 Inhibitor, and Rifampin, a CYP3A4 Inducer, on the Pharmacokinetics of Vatiquinone
• Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview
• Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C
• Emerging antioxidant therapies in Friedreich's ataxia
• Emerging therapies for childhood-onset movement disorders
• Emerging therapies in hereditary ataxias
• Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study
• Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia
• Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
• Expression and processing of mature human frataxin after gene therapy in mice
• Expression and processing of mature human frataxin after gene therapy in mice
• FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change
• Ferrostatin-1 specifically targets mitochondrial iron-sulfur clusters and aconitase to improve cardiac function in Sirtuin 3 cardiomyocyte knockout mice
• Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
• Friedreich Ataxia
• Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure
• Friedreich's Ataxia and Cesarean Delivery: A Case Report of Epidural Anesthesia With Ropivacaine
• Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons
• Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)
• Generation of genetically modified Friedreich's ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette
• Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene
• Genetic Determined Iron Starvation Signature in Friedreich's Ataxia
• Genetic Myelopathies
• Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze
• Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich ataxia
• Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila
• Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia
• How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function?
• Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement
• Insulin sensitivity and insulin secretion in adults with Friedreich's Ataxia: the role of skeletal muscle
• Leber Hereditary Optic Neuropathy in 2 Sisters With Friedreich Ataxia
• Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia
• Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia
• Loss of filamentous actin, tight junction protein expression, and paracellular barrier integrity in frataxin-deficient human brain microvascular endothelial cells-implications for blood-brain barrier physiology in Friedreich's ataxia
• Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia
• Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions
• Mechanism and structural dynamics of sulfur transfer during de novo [2Fe-2S] cluster assembly on ISCU2
• METTL17 is an Fe-S cluster checkpoint for mitochondrial translation
• Mitochondrial Calcium Regulation of Cardiac Metabolism in Health and Disease
• NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia
• Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
• New and Emerging Drug and Gene Therapies for Friedreich Ataxia
• Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements
• Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations
• Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia
• Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
• Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy
• Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study
• Perspectives of the Friedreich ataxia community on gene therapy clinical trials
• Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data
• Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
• Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of Sao Paulo, Brazil
• Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
• Relative Bioavailability of Omaveloxolone When Capsules Are Sprinkled Over and Mixed in Applesauce Compared With Administration as Intact Omaveloxolone Capsules: A Phase 1, Randomized, Open-Label, Single-Dose, Crossover Study in Healthy Adults
• Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions"
• Retinal OCT biomarkers and neurodegenerative diseases of the central nervous system beyond Alzheimer's disease
• Retraction: Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type
• Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics
• Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI-1601) in Friedreich's ataxia
• Searching for Frataxin Function: Exploring the Analogy with Nqo15, the Frataxin-like Protein of Respiratory Complex I from <em>Thermus thermophilus</em>
• Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia
• SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana
• Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study
• The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
• The importance of synthetic pharmacotherapy for recessive cerebellar ataxias
• The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI)
• The Mechanism of Folding of Human Frataxin in Comparison to the Yeast Homologue - Broad Energy Barriers and the General Properties of the Transition State
• The Regulation of the Disease-Causing Gene <em>FXN</em>
• The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
• Tissue Iron in Friedreich Ataxia
• Trinucleotide Repeat Disorders
• Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
• Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman