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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- 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. Genetic modifiers of Friedreich's ataxia pathophysiology in Drosophila melanogaster - A systematic review and meta-analysis. (2026/10/01) ♡
- 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. Interleukin-6: A potential link in the pathophysiology of restless legs syndrome. (2026/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Physiologically Regulated Frataxin Gene Replacement Restores Neurological Function in a Mouse Model of Friedreich Ataxia. (2026/08/09) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Impaired Glur2 palmitoylation in cerebellar Purkinje cells of a Friedreich ataxia mouse model. (2026/08/09) ♡
- BRD4 recruitment into HP1 condensates desilences transcription without erasure of repressive chromatin. (2026/08/05) ♡
- 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. Mental health issues in cerebellar disorders. (2026/08/01) ♡
- Neurophysiological assessment of disease severity in Friedreich's Ataxia: a study of brainstem auditory and visual evoked potentials. (2026/08/01) ♡
- Frataxin Expression in Sensory Neurons Is Required for Muscle Spindle Function and Proprioception. (2026/08/01) ♡
- Digital Motor Outcomes Capture Upper Limb and Mild Stage Impairment in Hereditary Spastic Paraplegia. (2026/08/01) ♡
- Patient-Reported Symptom Burden in Individuals With Parkinson Disease. (2026/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications. (2026/08/01) ♡
- 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. Cognitive training and promoting a healthy lifestyle in isolated REM sleep behavior disorder: The randomized controlled trial CogTrAiL-RBD. (2026/08/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Limiting intestinal iron absorption rescues glial defects and extends lifespan in a Drosophila model of Friedreich's ataxia. (2026/07/29) ♡
- Omaveloxolone Driven NRF2 Activation as a Novel Therapeutic Strategy for Pulmonary Hypertension. (2026/07/27) ♡
- Efficacy and Safety of Gefurulimab in Generalized Myasthenia Gravis: The PREVAIL Phase 3 Randomized Clinical Trial. (2026/07/27) ♡
- 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. Evolution of Friedreich's Ataxia Management Across Established and Emerging Therapies-Systematic Review and Meta-Analysis. (2026/07/21) ♡
- Unlocking Sulforaphane's Potential in Friedreich Ataxia: Further Evidence from Preclinical Investigations Using Induced Pluripotent Stem Cell-Derived Sensory Neurons. (2026/07/20) ♡
- 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. Pediatric Ataxia and Emerging Treatments. (2026/07/17) ♡
- NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea. (2026/07/16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Quality of life improvements with setmelanotide treatment in acquired hypothalamic obesity: TRANSCEND trial interview results from US participants. (2026/07/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression. (2026/07/13) ♡
- 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. CRISPR-Cas9-based therapies for Huntington's disease and Friedreich's ataxia: mechanisms, advances, and future perspectives. (2026/07/13) ♡
- 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. Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review. (2026/07/06) ♡
- An optimized "hypoxia in a pill" regimen reverses neurodegenerative disease phenotypes in multiple preclinical models. (2026/07/03) ♡
- Value of MRI Outcomes for Preventive and Early-Stage Trials in Spinocerebellar Ataxias 1 and 3. (2026/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK. (2026/07/01) ♡
- 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. MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group. (2026/07/01) ♡
- 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. Epigenetic reactivation in Friedreich's ataxia from benzamides to gene‑targeted chimeras. (2026/07/01) ♡
- Pharmacological Activation of NRF2 by Omaveloxolone Upregulates NRF2-Target Proteins in SMA Type I Human Fibroblasts. (2026/06/30) ♡
- Trends and Disparities in Mortality from Hereditary Ataxia in United States, 2000-2020: A Retrospective Analysis with Projections to 2050. (2026/06/29) ♡
- Impact of Omaveloxolone on Serum Lipids in Patients with Friedreich Ataxia: A 1-Year Real-World Analysis. (2026/06/29) ♡
- 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. Advances in Gene and Cellular Therapy in Friedreich Ataxia. (2026/06/29) ♡
- Access to specialist ataxia centres in Europe: cross-sectional surveys in the United Kingdom, Italy, and Germany. (2026/06/24) ♡
- Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model. (2026/06/23) ♡
- Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives. (2026/06/23) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: In vitro and in vivo insights into therapeutic targeting. (2026/06/22) ♡
- AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial. (2026/06/17) ♡
- Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models. (2026/06/16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cerebellar cognitive-affective syndrome in Friedreich Ataxia. (2026/06/16) ♡
- Domain Adaptation for IMU Data to Enhance Objective Assessment of Friedreich Ataxia. (2026/06/10) ♡
- FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. (2026/06/09) ♡
- Thermodynamic Preference of Fe(2+) for a C-Terminal Coordination Site in Human Frataxin Revealed by Multiscale Simulations. (2026/06/08) ♡
- Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow. (2026/06/08) ♡
- Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia. (2026/06/08) ♡
- Autophagy activation by urolithin-a derivative UA-36 mitigates Friedreich's ataxia pathologies induced by frataxin deficiency. (2026/06/04) ♡
- Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions. (2026/06/02) ♡
- Anodal cerebellar tDCS does not alter beta oscillations or corticokinematic coherence in Friedreich's ataxia and healthy participants. (2026/06/02) ♡
- Integration of Evolutionary Analysis With RFdiffusion for De Novo Design of Aggregation-Resistant Frataxin. (2026/06/01) ♡
- Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation. (2026/06/01) ♡
- 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. Targeting competitive Fe-S regulation to treat Friedreich's ataxia. (2026/06/01) ♡
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