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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period. (2025-07-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study (2025-06-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (2025-06-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (2025-05-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Multiple Ascending Dose Study of DT-216P2 in Patients With Friedreich's Ataxia (2025-05-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia (2025-05-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Single Ascending Dose Study of DT-216P2 in Normal Healthy Participants (2025-02-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Home Based Tele-exercise for People With Chronic Neurological Impairments (2025-02-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neurology Measures in FA Children (2025-01-16) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review. (2024/12/30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study. (2024/12/24) ♡
- Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich's Ataxia. (2024/12/17) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease. (2024/12/16) ♡
- Harshly Oxidized Activated Charcoal Enhances Protein Persulfidation with Implications for Neurodegeneration as Exemplified by Friedreich's Ataxia. (2024/12/13) ♡
- Trinucleotide Repeat Disorders. (2024/12/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Frataxin is essential for zebrafish embryogenesis and pronephros formation. (2024/12/11) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies. (2024/12/06) ♡
- RTA408 alleviates lipopolysaccharide-induced acute lung injury via inhibiting Bach1-mediated ferroptosis. (2024/12/05) ♡
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease. (2024/12/05) ♡
- Recurrent DNA nicks drive massive expansions of (GAA)(n) repeats. (2024/12/03) ♡
- Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability. (2024/12/03) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements. (2024/12/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Effect of Itraconazole, a CYP3A4 Inhibitor, and Rifampin, a CYP3A4 Inducer, on the Pharmacokinetics of Vatiquinone. (2024/12/01) ♡
- Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies. (2024/12/01) ♡
- Purkinje Cell Dendritic Swellings: A Postmortem Study of Essential Tremor and Other Cerebellar Degenerative Disorders. (2024/12/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Differential Effects of Cerebellar Transcranial Direct Current Stimulation with Gait Training on Functional Mobility, Balance, and Ataxia Symptoms. (2024/12/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Combinations of physical and cognitive training for subcortical neurodegenerative diseases with physical, cognitive and behavioral symptoms: a systematic review. (2024/12/01) ♡
- Exploring neuropsychiatric symptoms in Friedreich ataxia. (2024/11/23) ♡
- Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN. (2024/11/20) ♡
- Precision medicine and Friedreich ataxia: promoting equity, beneficence, and informed consent for novel gene therapies. (2024/11/08) ♡
- Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia. (2024/11/06) ♡
- Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia. (2024/11/01) ♡
- Pyridoxal-5'-phosphate: A cost-effective treatment candidate for hypertensive patients? (2024/11/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Lack of Concentration-QTc Relationship and Cardiac Risk With Vatiquinone Therapeutic and Supratherapeutic Doses. (2024/11/01) ♡
- Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia. (2024/11/01) ♡
- At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich's Ataxia. (2024/10/29) ♡
- Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters. (2024/10/29) ♡
- Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy. (2024/10/25) ♡
- ATH434, a promising iron-targeting compound for treating iron regulation disorders. (2024/10/04) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Emerging perspectives of copper-mediated transcriptional regulation in mammalian cell development. (2024/10/04) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy. (2024/10/03) ♡
- The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia. (2024/10/01) ♡
- Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia. (2024/10/01) ♡
- Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia. (2024/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. (2024/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. 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. (2024/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich ataxia. (2024/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. New and Emerging Drug and Gene Therapies for Friedreich Ataxia. (2024/10/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia. (2024/10/01) ♡
- Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response. (2024/10/01) ♡
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