Disease: Friedreich Ataxia
- A Bayesian Network Approach for Friedreich Ataxia Severity Classification using Probability Modelling
- A kinetic model of iron trafficking in growing Saccharomyces cerevisiae cells; applying mathematical methods to minimize the problem of sparse data and generate viable autoregulatory mechanisms
- A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)
- A modified mouse model of Friedreich's ataxia with conditional <em>Fxn</em> allele homozygosity delays onset of cardiomyopathy
- A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy
- A Novel Feature from Instrumented Utensils for Clinical Assessment of 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
- Aging, Neurodegenerative Disorders, and Cerebellum
- Apixaban for Prevention of Thromboembolism in Pediatric Heart Disease
- Approval of omaveloxolone for Friedreich ataxia
- Ataxia
- Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia
- Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
- Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
- Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia
- Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan
- Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
- Correction to Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)
- Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
- Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
- Disease Delineation for Multiple Sclerosis, Friedreich Ataxia, and Healthy Controls Using Supervised Machine Learning on Speech Acoustics
- Domain-Selective BET Ligands Yield Next-Generation Synthetic Genome Readers/Regulators with Nonidentical Cellular Functions
- Effectiveness of rehabilitation intervention in persons with Friedreich ataxia
- Emerging antioxidant therapies in Friedreich's ataxia
- Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rationale, recent advances, and future perspectives
- Emerging therapies for childhood-onset movement disorders
- End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases
- Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study
- Experimental drugs for Friedrich's ataxia: progress and setbacks in clinical trials
- 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
- Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
- Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
- Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models
- Friedreich Ataxia
- 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 and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene
- 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
- Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland
- Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
- Involvement of Coenzyme Q10 in Various Neurodegenerative and Psychiatric Diseases
- ISFAR Reiterates Its Defense of Moderate Alcohol Consumption's Health Benefits
- Leber Hereditary Optic Neuropathy in 2 Sisters With Friedreich Ataxia
- Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich 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
- Management of Friedreich Ataxia-Associated Cardiomyopathy in Pregnancy: A Review of the Literature
- Management of Friedreich's Ataxia-Associated Cardiomyopathy in Pregnancy: A Review of the Literature
- 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 impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
- Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases
- Multiple urinary peptides display distinct sex-specific distribution
- Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
- Neurologic orphan diseases: Emerging innovations and role for genetic treatments
- Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
- 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)
- 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
- Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
- Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of Sao Paulo, Brazil
- Proprioceptive and tactile processing in individuals with Friedreich ataxia: an fMRI study
- Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy
- Rationale and protocol of a double-blind, randomized, placebo-controlled trial to test the efficacy, safety, and tolerability of dimethyl fumarate in Friedreich Ataxia (DMF-FA-201)
- Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
- Recent progress and applications of small molecule inhibitors of Keap1-Nrf2 axis for neurodegenerative diseases
- 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
- 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>
- Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia
- Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia
- Structural peculiarities of tandem repeats and their clinical significance
- SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana
- Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle
- The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia
- The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
- 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 Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
- The Therapeutic Potential of Targeting Ferroptosis in the Treatment of Mitochondrial Cardiomyopathies and Heart Failure
- Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis
- Tissue Iron in Friedreich Ataxia
- Trinucleotide Repeat Disorders
- Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich's ataxia from other inherited ataxias
- Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
- Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
- Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman