← All diseases
Rare and hereditary disorders
Friedreich's ataxia
Would you like to receive a message when there is new research on Friedreich's Ataxia? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, a single sentence above each publication explains what was investigated — and you'll receive a message as soon as there is new research on Friedreich's Ataxia. View what Premium costs.
Publications and studies (1112)
- HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1. (2024/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival. (2024/10/01) ♡
- Understanding the mechanisms of food effect on omaveloxolone pharmacokinetics through physiologically based biopharmaceutics modeling. (2024/10/01) ♡
- Design and validation of cell-based potency assays for frataxin supplementation treatments. (2024/09/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report. (2024/09/17) ♡
- 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. Skeletal Muscle Involvement in Friedreich Ataxia. (2024/09/13) ♡
- 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. Mitochondrial Calcium Regulation of Cardiac Metabolism in Health and Disease. (2024/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila. (2024/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX). (2024/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of genetically modified Friedreich's ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette. (2024/09/01) ♡
- 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. The importance of synthetic pharmacotherapy for recessive cerebellar ataxias. (2024/09/01) ♡
- 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. Neurological glycogen storage diseases and emerging therapeutics. (2024/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Calcitriol in Friedreich Ataxia. (2024/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Calcitriol in Friedreich Ataxia". (2024/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Interplay of FXN expression and lipolysis in white adipocytes plays a critical role in insulin sensitivity in Friedreich's ataxia mouse model. (2024/08/27) ♡
- A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients. (2024/08/09) ♡
- mTORC1 Signaling Inhibition Modulates Mitochondrial Function in Frataxin Deficiency. (2024/08/07) ♡
- Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland. (2024/08/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia. (2024/07/18) ♡
- DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich's Ataxia. (2024/07/08) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model. (2024/07/02) ♡
- Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia. (2024/07/01) ♡
- Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study. (2024/07/01) ♡
- Genetic Determined Iron Starvation Signature in Friedreich's Ataxia. (2024/07/01) ♡
- Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients. (2024/07/01) ♡
- Ferrostatin-1 specifically targets mitochondrial iron-sulfur clusters and aconitase to improve cardiac function in Sirtuin 3 cardiomyocyte knockout mice. (2024/07/01) ♡
- Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. (2024/07/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gradient of microstructural damage along the dentato-thalamo-cortical tract in Friedreich ataxia. (2024/07/01) ♡
- Continuous Optimization of a Hierarchical Bayesian Network for Friedreich's Ataxia Severity Classification. (2024/07/01) ♡
- Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia. (2024/06/15) ♡
- 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 Regulation of the Disease-Causing Gene FXN. (2024/06/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Friedreich's Ataxia and Cesarean Delivery: A Case Report of Epidural Anesthesia With Ropivacaine. (2024/06/06) ♡
- Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L. (2024/06/01) ♡
- 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. Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis. (2024/06/01) ♡
- 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. Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers. (2024/06/01) ♡
- 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. Emerging therapies for childhood-onset movement disorders. (2024/06/01) ♡
- Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure. (2024/06/01) ♡
- The Limb Girdle Muscular Dystrophy Health Index (LGMD-HI). (2024/06/01) ♡
- 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. Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions. (2024/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions". (2024/06/01) ♡
- Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement. (2024/05/30) ♡
- An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia. (2024/05/26) ♡
- An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease. (2024/05/22) ♡
- Long non-coding RNA TUG1 is downregulated in Friedreich's ataxia. (2024/05/15) ♡
- Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C. (2024/05/02) ♡
- 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 roles of the brain glycogen. (2024/05/01) ♡
- SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana. (2024/05/01) ♡
- Mapping Novel Frataxin Mitochondrial Networks Through Protein-Protein Interactions. (2024/04/26) ♡
- 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. Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview. (2024/04/26) ♡
- 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. A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia. (2024/04/01) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.