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Friedreich's ataxia

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchStrongest evidence only (44)Meta-analysis (8)Treatment guideline (2)Randomized trial (20)Systematic review (9)Phase 3 study (5)Clinical trial (125)Review article (205)Early study (phase 1 or 2) (14)Case report (57)Laboratory or animal research (47)Commentary or editorial (36)Retracted publication (1) Only studies currently seeking participants (25)

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Publications and studies (1112)

• Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia. (2018/12/31) ♡
• Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia. (2018/12/01) ♡
• Intraepidermal Nerve Fiber Density in Friedreich's Ataxia. (2018/12/01) ♡
• OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia. (2018/11/25) ♡
• FAST-1 antisense RNA epigenetically alters FXN expression. (2018/11/21) ♡
• Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare. (2018/11/21) ♡
• Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes. (2018/11/19) ♡
• 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 signalling and neurodegenerative diseases. (2018/11/16) ♡
• 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. Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review. (2018/11/13) ♡
• 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. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. (2018/11/10) ♡
• 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. Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease. (2018/11/02) ♡
• Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia. (2018/11/01) ♡
• Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia. (2018/10/30) ♡
• 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. Potential Treatment of Retinal Diseases with Iron Chelators. (2018/10/22) ♡
• 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. New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases. (2018/10/19) ♡
• Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia. (2018/10/09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. (2018/10/04) ♡
• Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology. (2018/10/02) ♡
• The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population. (2018/10/01) ♡
• Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich's ataxia. (2018/10/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Rare Diseases Inform Myocardial Phenotypes for Precision Medicine. (2018/10/01) ♡
• 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. Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? (2018/09/19) ♡
• Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion. (2018/09/15) ♡
• Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag. (2018/09/07) ♡
• Functional and Structural Brain Damage in Friedreich's Ataxia. (2018/09/06) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). (2018/09/04) ♡
• Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests. (2018/09/01) ♡
• The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects. (2018/09/01) ♡
• Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. (2018/09/01) ♡
• Autonomic function testing in Friedreich's ataxia. (2018/09/01) ♡
• Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity. (2018/09/01) ♡
• Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels. (2018/08/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Child Neurology: Friedreich ataxia with upper motor neuron findings: A case study. (2018/08/28) ♡
• RNA-Dependent Epigenetic Silencing Directs Transcriptional Downregulation Caused by Intronic Repeat Expansions. (2018/08/23) ♡
• 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: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases. (2018/08/09) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pitfalls in molecular diagnosis of Friedreich ataxia. (2018/08/01) ♡
• Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia. (2018/08/01) ♡
• 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. Double-blind, randomized and controlled trial of EPI-743 in Friedreich's ataxia. (2018/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Frataxin Restoration in the Nervous System: Possibilities for Gene Therapy. (2018/08/01) ♡
• Value of cardiac biomarker measurement in the differential diagnosis of infiltrative cardiomyopathy patients with preserved left ventricular systolic function. (2018/08/01) ♡
• Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells. (2018/07/26) ♡
• Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia. (2018/07/23) ♡
• Longitudinal analysis of contrast acuity in Friedreich ataxia. (2018/07/23) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia. (2018/07/20) ♡
• Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models. (2018/07/17) ♡
• 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. Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases. (2018/07/15) ♡
• 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. Impact of Drosophila Models in the Study and Treatment of Friedreich's Ataxia. (2018/07/07) ♡
• 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 dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia. (2018/07/01) ♡
• 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. Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich's ataxia. (2018/07/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Strong correlations among four measures of disease progression in Friedreich's ataxia. (2018/07/01) ♡

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