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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy. (2025/08/27) ♡
- Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. (2025/08/24) ♡
- Alpha-lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia. (2025/08/23) ♡
- The clinical burden of Friedreich ataxia in the United States: A retrospective claims database analysis. (2025/08/15) ♡
- 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. Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. (2025/08/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis. (2025/08/04) ♡
- 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. Characterization of Apixaban Pharmacokinetics/Pharmacodynamics and Dose Assessment in Pediatric Patients with Congenital or Acquired Heart Disease. (2025/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Cerebellar transcranial direct current stimulation in Friedreich ataxia: Anatomy matters. (2025/08/01) ♡
- 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. Ataxia. (2025/08/01) ♡
- False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia. (2025/07/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Stable Isotope Labeling in Bacteria Enables Characterization and Quantification of Frataxin Protein in a Friedreich's Ataxia Zebrafish Model. (2025/07/08) ♡
- 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 rare multisystem disease. (2025/07/01) ♡
- Antisense oligonucleotide therapy for patients with Friedreich's ataxia carrying the c.165+5G>C splicing mutation. (2025/07/01) ♡
- Enhancing the Objective Assessment of Friedreich Ataxia Severity: A Multiview IMU-Based Approach. (2025/07/01) ♡
- Objective Assessment of Friedreich Ataxia in Children: Accounting for Developmental Deficits. (2025/07/01) ♡
- Reliable Objective Assessment of Friedreich Ataxia Through Isolation Forest-Based Anomaly Detection. (2025/07/01) ♡
- 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. Friedreich Ataxia. (2025/06/26) ♡
- Pharmacokinetics and Pharmacodynamics of Nomlabofusp in Non-clinical Studies of Friedreich's Ataxia. (2025/06/25) ♡
- Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data. (2025/06/18) ♡
- Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases. (2025/06/01) ♡
- Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery. (2025/06/01) ♡
- Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in Saccharomyces cerevisiae. (2025/05/28) ♡
- Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland. (2025/05/26) ♡
- 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. Atypical Forms of Diabetes. (2025/03/10) ♡
- 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 therapies in hereditary ataxias. (2025/02/01) ♡
- Determination of Vatiquinone Drug-Drug Interactions, as CYP450 Perpetrator and Victim, Using Physiologically Based Pharmacokinetic (PBPK) Modeling and Simulation. (2025/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. (2025/02/01) ♡
- Utility of Optical Genome Mapping in Repeat Disorders. (2025/02/01) ♡
- Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, Safety, and Future Perspectives. (2025/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Tachycardiomyopathy Treated With Ablation by Using 3D Mapping System in a Patient With Friedreich Ataxia. (2025/02/01) ♡
- Patient- and Caregiver-Reported Impact of Symptoms in Alzheimer Disease, Mild Cognitive Impairment, and Dementia. (2025/02/01) ♡
- Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension. (2025/02/01) ♡
- Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia. (2025/01/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Muscle Endurance Training in a Person with Friedreich's Ataxia. (2025/01/09) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia. (2025/01/01) ♡
- Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. (2025/01/01) ♡
- Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms. (2025/01/01) ♡
- 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. Iron Metabolism in Cardiovascular Disease. (2025/01/01) ♡
- The Tiger Milk Medicinal Mushroom Lignosus rhinocerus (Agaricomycetes) Mitigates Oxidative Damage in a Cellular Model Mimicking Friedreich's Ataxia. (2025/01/01) ♡
- Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study. (2025/01/01) ♡
- 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. Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia (2025-12-23) ♡
- 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. FRDA Investigator Initiated Study (IIS) With Elamipretide (2025-12-12) ♡
- 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 ASP2016 in Adults Who Have Heart Disease Associated With Friedreich Ataxia (2025-11-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory Training in Friedreich's Ataxia (2025-11-03) ♡
- 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 Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia (2025-10-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) (2025-10-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarkers in Friedreich's Ataxia (2025-09-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders (2025-09-10) ♡
- 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 of Vatiquinone for the Treatment of Participants With Friedreich Ataxia (2025-08-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome. (2025-07-31) ♡
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