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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Appropriate use of steroids for patients with generalized Myasthenia Gravis: an international Delphi study. (2025/12/16) ♡
- 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. Progressive scoliosis in a pediatric patient with cerebellar ataxia: surgical challenges and literature review. (2025/12/15) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The Impact of Calcitriol on Frataxin Levels in Friedreich's Ataxia Patients: Insights and Future Directions. (2025/12/12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study. (2025/12/11) ♡
- Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study. (2025/12/11) ♡
- Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder. (2025/12/01) ♡
- 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. Enhanced Vatiquinone Bioavailability With Fatty Meals and Optimal Dosing Schedule. (2025/12/01) ♡
- Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants. (2025/12/01) ♡
- 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. Progress and challenges in sporadic late-onset cerebellar ataxias. (2025/12/01) ♡
- AstroGreen transgenic mouse illuminates the trafficking of astrocyte-derived extracellular vesicles. (2025/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich's ataxia: insights from in vitro models. (2025/12/01) ♡
- Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia. (2025/12/01) ♡
- Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. (2025/11/29) ♡
- Correction: Mitochondrial impairment, decreased Sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich ataxia models. (2025/11/26) ♡
- 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 case of Friedreich Ataxia and left ventricular hypertrophy induced by FXN gene mutation]. (2025/11/24) ♡
- Survival in Brazilian Patients with Friedreich's Ataxia. (2025/11/22) ♡
- The Goal Attainment Scale in Spinocerebellar Ataxia Type 3: Exploration of Feasibility and Content Validity. (2025/11/22) ♡
- Profiles of blood-brain barrier and neurodegeneration markers in cerebrospinal fluid of patients with cerebral amyloid angiopathy. (2025/11/18) ♡
- 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. Research Progress on Idebenone in Neurodegenerative Diseases. (2025/11/18) ♡
- 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. Mitochondria-Mediated Mechanisms of Ferroptosis in Neurological Diseases. (2025/11/10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia. (2025/11/01) ♡
- Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy. (2025/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Letter in response to Fuller et al., Functional Rating Scale 2.0 (FuRST 2.0): A patient-reported outcome measure of function for Huntington's disease. (2025/11/01) ♡
- Leriglitazone improves iron homeostasis and ferroptotic markers in frataxin-deficient dorsal root ganglia neurons. (2025/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study. (2025/11/01) ♡
- 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. From Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders. (2025/11/01) ♡
- Comparative Structural Analysis of Escherichia coli Cyay at Room and Cryogenic Temperatures Using Macromolecular and Serial Crystallography. (2025/10/31) ♡
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia. (2025/10/28) ♡
- Positron emission tomography reveals increased myocardial glucose uptake in a subset of Friedreich ataxia patients. (2025/10/24) ♡
- Delphi study to elicit expert consensus around decision-making in the treatment of Friedreich ataxia. (2025/10/24) ♡
- Neuropsychiatric Challenges of Friedreich Ataxia in a Patient Residing in a Long-Term Care Facility. (2025/10/23) ♡
- 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. Synthesis and Biological Profile of Omaveloxolone: The Cornerstone for Friedreich Ataxia Treatment. (2025/10/07) ♡
- Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. (2025/10/05) ♡
- Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1. (2025/10/04) ♡
- RTA-408 overcomes cisplatin-resistant lung cancer by inhibiting WWP1-mediated NCOA4 ubiquitination to induce ferritinophagy and ferroptosis. (2025/10/01) ♡
- 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. Limb-Girdle Muscular Dystrophy Scientific Workshop: A Multistakeholder Discussion Focused on Charting the Path Forward for Drug Development. (2025/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Sensory nerve action potential reappearance after omaveloxolone treatment in patients with Friedreich ataxia. (2025/10/01) ♡
- Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia. (2025/10/01) ♡
- 279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024. (2025/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction. (2025/09/25) ♡
- Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study. (2025/09/10) ♡
- 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. Oxidative Stress and Antioxidant Therapies in Friedreich's Ataxia. (2025/09/09) ♡
- Characterizing Population Pharmacokinetics of Vatiquinone in Healthy Volunteers and Patients with Friedreich's Ataxia. (2025/09/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease. (2025/09/03) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Evaluation of Mitochondrial Complex 1 Density with [(18)F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia. (2025/09/02) ♡
- 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. Understanding the genetics and neurology: an overview of adult neurogenetics. (2025/09/02) ♡
- Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network. (2025/09/01) ♡
- 3D Printing for Neural Repair: Bridging the Gap in Regenerative Medicine. (2025/09/01) ♡
- 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. Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models. (2025/08/30) ♡
- 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 drivers of DNA repeat expansions. (2025/08/29) ♡
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