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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)

• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia. (2020/07/27) ♡
• 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. Antioxidant Therapies and Oxidative Stress in Friedreich's Ataxia: The Right Path or Just a Diversion? (2020/07/24) ♡
• A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats. (2020/07/21) ♡
• 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. Current Status of microRNA-Based Therapeutic Approaches in Neurodegenerative Disorders. (2020/07/15) ♡
• 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. The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic. (2020/07/01) ♡
• 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. Therapeutic potential of stem cells for treatment of neurodegenerative diseases. (2020/07/01) ♡
• Quantitative Assessment of Friedreich Ataxia through the self-drinking activity. (2020/07/01) ♡
• Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity. (2020/07/01) ♡
• HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia. (2020/06/05) ♡
• Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein. (2020/06/01) ♡
• A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients. (2020/06/01) ♡
• Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia. (2020/06/01) ♡
• Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia. (2020/05/28) ♡
• Vestibular impact of Friedreich ataxia in early onset patients. (2020/05/28) ♡
• 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. Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. (2020/05/26) ♡
• 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. Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus. (2020/05/12) ♡
• Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias. (2020/05/08) ♡
• Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia. (2020/05/07) ♡
• CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. (2020/05/03) ♡
• Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase. (2020/05/01) ♡
• 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. An Overview of the Current State and the Future of Ataxia Treatments. (2020/05/01) ♡
• 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. Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement. (2020/05/01) ♡
• ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. (2020/04/28) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel frameshift mutation in the SACS gene causing spastic ataxia of Charlevoix-Saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature. (2020/04/26) ♡
• 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. Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration. (2020/04/15) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice. (2020/04/08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study. (2020/04/01) ♡
• Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. (2020/04/01) ♡
• Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort. (2020/03/20) ♡
• Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. (2020/03/15) ♡
• 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. Hepcidin and its therapeutic potential in neurodegenerative disorders. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia. (2020/02/01) ♡
• Health-related quality of life and depressive symptoms in Friedreich ataxia. (2020/02/01) ♡
• Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study. (2020/02/01) ♡
• Temporal but not spatial dysmetria relates to disease severity in FA. (2020/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia. (2020/02/01) ♡
• Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology. (2020/02/01) ♡
• Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. (2020/01/30) ♡
• 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. Keeping heart homeostasis in check through the balance of iron metabolism. (2020/01/01) ♡
• Microvascular pathology in Friedreich cardiomyopathy. (2020/01/01) ♡
• Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. (2020/01/01) ♡
• The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. (2020/01/01) ♡
• 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. Mitochondrial dysfunction in neurons in Friedreich's ataxia. (2020/01/01) ♡
• 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. Neurochemical profiles in hereditary ataxias: A meta-analysis of Magnetic Resonance Spectroscopy studies. (2020/01/01) ♡
• Age of onset determines intrinsic functional brain architecture in Friedreich ataxia. (2020/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy. (2020/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A First in Human Study of RT001 in Patients With Friedreich's Ataxia (2020-11-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Single Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia (2020-11-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia (2020-08-31) ♡

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