Friedreich's ataxia
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Publications and studies (1112)
- 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. [Friedreich's ataxia: The most common autosomal recessive inherited ataxia]. (2026/02/01) ♡
- Zygomatic Screws for Severe Open Bite Closure in a Young Friedreich's Ataxia Patient: A Case Report. (2026/01/20) ♡
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. (2026/01/15) ♡
- [Pharmacotherapy of neuromuscular diseases : what's new in 2025]. (2026/01/14) ♡
- 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. Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review. (2026/01/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis. (2026/01/05) ♡
- 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. Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy. (2026/01/01) ♡
- A Digital Measure of Eye Movements During Reading Sensitively Captures Oculomotor and Speech Dysfunction, Early Changes, and Disease Progression in Ataxias. (2026/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia-It Is Not Too Late. (2026/01/01) ♡
- Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study. (2026/01/01) ♡
- Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: An electric field modelling study. (2026/01/01) ♡
- 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. Friedreich Ataxia. (2026/01/01) ♡
- KRAS Withdrawal in Cholangiocarcinoma Leads to Immune Infiltration and Tumor Regression. (2026/01/01) ♡
- Induced Proprioceptor and Low-Threshold Mechanoreceptor Neurons Derived from Human Pluripotent Stem Cells Exhibit Distinct Functional Mechanosensory Properties. (2026/01/01) ♡
- Mutations in mitochondrial ferredoxin FDX2 suppress frataxin deficiency. (2026/01/01) ♡
- Cross-regulation of [2Fe-2S] cluster synthesis by ferredoxin-2 and frataxin. (2026/01/01) ♡
- 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. Treatment of primary adult-onset neurodegenerative cerebellar ataxias. (2026/01/01) ♡
- Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment. (2026/01/01) ♡
- Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy. (2026/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Longitudinal Analysis of Oral Communication in Friedreich's Ataxia (2026-07-31) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Study of SGT-212 Gene Therapy in Friedreich's Ataxia (2026-07-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) (2026-07-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia (2026-07-28) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Study of LX2006 Gene Therapy in Friedreich Ataxia Cardiomyopathy (2026-07-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia (2026-07-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Learn How BIIB141 (Omaveloxolone) Affects the Health of Participants With Friedrich's Ataxia Who Took it During Pregnancy and/or During Breastfeeding and About the Health of Their Babies (2026-07-10) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Study to Assess Nomlabofusp in Adolescents and Children With Friedreich's Ataxia (2026-07-10) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA) (2026-07-02) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. A Study to Learn More About the Effects and Long-Term Safety of Omaveloxolone (BIIB141) in Children and Teens With Friedreich's Ataxia (2026-06-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. GABA and GSH in FRDA (2026-06-09) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Course Of Disease In Participants With FA-CM (2026-06-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia (2026-06-02) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA) (2026-05-20) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. An Open-Label Study of CTI-1601 in Subjects With Friedreich's Ataxia (2026-05-13) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old (2026-05-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia (2026-04-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Learn More About the Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Who Are Prescribed it by Their Own Doctors (2026-04-28) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia (2026-04-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Friedreich Ataxia Nerve Ultrasound (2026-04-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia (2026-04-01) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia (2026-03-31) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FRIEDREICH ATAXIA- STEROIDOGENESIS (2026-03-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. NAD+ and Exercise in FA (2026-03-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac Output and Fatigue in Friedreich's Ataxia (2026-03-02) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. A Study to Learn About the Effects and Safety of RTA 408 (Omaveloxolone) in People Aged 16 to 40 With Friedreich's Ataxia (2026-01-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Measurement of Frataxin mRNA in Biofluids (2026-01-16) ♡
- Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia. (2025/12/26) ♡
- 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. Neuropathology of Friedreich ataxia and its links to metabolic pathways. (2025/12/25) ♡
- Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. (2025/12/24) ♡
- Ferroptosis is a novel pathogenic mechanism of FDXR-related disease via disruption of the NRF2 pathway. (2025/12/23) ♡
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