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Rare and hereditary disorders
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. Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review. (2022/11/29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. (2022/11/21) ♡
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. (2022/11/14) ♡
- Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. (2022/11/12) ♡
- Prediction of the disease course in Friedreich ataxia. (2022/11/10) ♡
- Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype. (2022/11/01) ♡
- Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES). (2022/11/01) ♡
- Blood Transcript Biomarkers Selected by Machine Learning Algorithm Classify Neurodegenerative Diseases including Alzheimer's Disease. (2022/10/29) ♡
- Evolution of an Iron-Detoxifying Protein: Eukaryotic and Rickettsia Frataxins Contain a Conserved Site Which Is Not Present in Their Bacterial Homologues. (2022/10/29) ♡
- RNA as a Major-Groove Ligand: RNA-RNA and RNA-DNA Triplexes Formed by GAA and UUC or TTC Sequences. (2022/10/24) ♡
- Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia. (2022/10/10) ♡
- Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design. (2022/10/03) ♡
- Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia. (2022/10/03) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. (2022/10/01) ♡
- 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. Friedreich ataxia: clinical features and new developments. (2022/10/01) ♡
- 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. Replication dependent and independent mechanisms of GAA repeat instability. (2022/10/01) ♡
- 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. A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia. (2022/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Diabetes mellitus and Friedreich's ataxia in a child: a complicated coexistence]. (2022/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The Use of Enhanced Recovery After Surgery Protocols and Sugammadex in a Friedreich Ataxia Patient Who Underwent Robotic Surgery: A Case Report of a Patient Who Required No Postoperative Opioids and Was Discharged Home Earlier Than Anticipated. (2022/09/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ataxia due to vitamin E deficiency: A case report and updated review. (2022/09/06) ♡
- A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. (2022/09/05) ♡
- Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. (2022/09/01) ♡
- Respiratory Function in Friedreich's Ataxia. (2022/08/29) ♡
- Hyperactivation of mTOR and AKT in a cardiac hypertrophy animal model of Friedreich ataxia. (2022/08/23) ♡
- Personal factors understood through the Ecological-Enactive Model of Disability and implications for rehabilitation research. (2022/08/12) ♡
- Perspectives on current models of Friedreich's ataxia. (2022/08/11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia. (2022/08/09) ♡
- 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. History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration. (2022/08/01) ♡
- Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015. (2022/08/01) ♡
- A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia. (2022/08/01) ♡
- Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia. (2022/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Importance of an echocardiogram in the evaluation of ataxia. (2022/07/27) ♡
- Frataxin controls ketone body metabolism through regulation of OXCT1. (2022/07/26) ♡
- Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation. (2022/07/13) ♡
- 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. Cardiovascular Research in Friedreich Ataxia: Unmet Needs and Opportunities. (2022/07/13) ♡
- Towards a metabolomic approach to investigate iron-sulfur cluster biogenesis. (2022/07/01) ♡
- Elesclomol elevates cellular and mitochondrial iron levels by delivering copper to the iron import machinery. (2022/07/01) ♡
- Erratum: A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models. (2022/07/01) ♡
- Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A. (2022/06/27) ♡
- Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach. (2022/06/13) ♡
- 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. Neuroinflammation in Friedreich's Ataxia. (2022/06/04) ♡
- Yeast cells depleted of the frataxin homolog Yfh1 redistribute cellular iron: Studies using Mössbauer spectroscopy and mathematical modeling. (2022/06/01) ♡
- Posttranslational regulation of mitochondrial frataxin and identification of compounds that increase frataxin levels in Friedreich's ataxia. (2022/06/01) ♡
- 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. Inherited Ataxias in Children. (2022/06/01) ♡
- Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network. (2022/06/01) ♡
- A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models. (2022/05/19) ♡
- Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia. (2022/05/17) ♡
- 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. Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia. (2022/05/17) ♡
- Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle. (2022/05/09) ♡
- 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. Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases. (2022/05/03) ♡
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