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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Friedreich's ataxia patient pathway in Europe. (2026/05/28) ♡
- A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX. (2026/05/23) ♡
- Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich's ataxia. (2026/05/21) ♡
- A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia. (2026/05/20) ♡
- 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. Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. (2026/05/20) ♡
- Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis. (2026/05/19) ♡
- Fronto-cerebellar connectivity disruptions and functional reorganization in Friedreich's Ataxia: A structural and resting-state fMRI study. (2026/05/15) ♡
- Integrative network pharmacology delineates dual GPCR and non-GPCR mechanisms of blended and individual Taikong Blue lavender and Pingyin rose essential oils in neurodegenerative and psychiatric disorders. (2026/05/15) ♡
- Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia. (2026/05/13) ♡
- 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. Pharmacological treatments for Friedreich ataxia. (2026/05/12) ♡
- Modeling Friedreich's ataxia with Bergmann glia-enriched human cerebellar organoids. (2026/05/08) ♡
- Digital Gait Measures Discriminate People with Friedreich's Ataxia from Healthy Controls. (2026/05/01) ♡
- 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. Quantifying Placebo Effects in Hereditary Ataxia Trials: A Meta-Analysis of Scale for the Assessment and Rating of Ataxia (SARA) Score Changes. (2026/05/01) ♡
- 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. Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials. (2026/05/01) ♡
- 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. Deciphering the missing links between Friedreich ataxia and multiple sclerosis for targeted drug development. (2026/05/01) ♡
- The Parkinson's Disease-Health Index: A novel, disease-specific patient-reported outcome measure. (2026/05/01) ♡
- Targeting exercise, energy, or both in Friedreich's ataxia. (2026/05/01) ♡
- Nomlabofusp Treatment Produces Frataxin Levels That Correlate Across Peripheral Tissues: Preclinical and Clinical Support for Surrogate Tissue Sampling. (2026/05/01) ♡
- Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich's ataxia. (2026/05/01) ♡
- 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. Safety 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. (2026/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Advanced Heart Failure in Friedreich's Ataxia: A Story of Challenges, Opportunities, and Hope. (2026/04/29) ♡
- Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. (2026/04/24) ♡
- The TRKB Agonist 7,8-dihydroxyflavone Alleviates DNA Damage and Apoptosis in a Neuronal Cell Model of Friedreich's Ataxia. (2026/04/22) ♡
- 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. Recent developments in Friedreich's ataxia: a state-of-the-art review. (2026/04/20) ♡
- Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia. (2026/04/18) ♡
- BRD4 recruitment desilences transcription without erasure or depletion of repressive chromatin. (2026/04/13) ♡
- 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. Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases. (2026/04/11) ♡
- Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. (2026/04/09) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A new c.681dup RUNX1 variant in familial leukemia. (2026/04/06) ♡
- Respiratory Function in Friedreich's Ataxia. (2026/04/01) ♡
- Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia. (2026/04/01) ♡
- 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. [Trinucleotide repeat disorders]. (2026/04/01) ♡
- Hypomagnetic Field Exposure Alters Iron-Sulfur Homeostasis and Oxidative Balance in a Frataxin-Deficient Insect System. (2026/04/01) ♡
- Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia. (2026/03/23) ♡
- Friedreich Ataxia. (2026/03/22) ♡
- Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis. (2026/03/20) ♡
- 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. The multifaceted nature of Friedreich ataxia: strategies for comprehensive patient care. (2026/03/17) ♡
- Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study. (2026/03/01) ♡
- Nerve Ultrasound in Patients With Friedreich Ataxia. (2026/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates. (2026/03/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning. (2026/03/01) ♡
- Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report. (2026/02/24) ♡
- Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. (2026/02/19) ♡
- CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats. (2026/02/18) ♡
- 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. Dimethyl fumarate and mitochondrial physiology: implications for neurological disorders. (2026/02/12) ♡
- Development of an AAV-based gene therapy for the ocular phenotype of Friedreich's ataxia. (2026/02/04) ♡
- Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale. (2026/02/01) ♡
- 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 new horizon for the anesthetic drug dyclonine. (2026/02/01) ♡
- 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. Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015-2025). (2026/02/01) ♡
- Targeting frataxin deficiency in DRG neurons and fibroblasts: omaveloxolone restores metabolic and iron balance to reduce ferroptosis. (2026/02/01) ♡
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