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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 (1001)

• Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids. (2020/09/25) ♡
• Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia. (2020/09/25) ♡
• Efficacy and Tolerability of Interferon Gamma in Treatment of Friedreich's Ataxia: Retrospective Study. (2020/09/21) ♡
• A Highly Conserved Iron-Sulfur Cluster Assembly Machinery between Humans and Amoeba Dictyostelium discoideum: The Characterization of Frataxin. (2020/09/17) ♡
• Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage. (2020/09/15) ♡
• Antiferroptotic Activity of Phenothiazine Analogues: A Novel Therapeutic Strategy for Oxidative Stress Related Disease. (2020/09/15) ♡
• Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients. (2020/09/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiomyopathy as the first manifestation of Friedreich's ataxia. (2020/09/10) ♡
• Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration. (2020/09/07) ♡
• Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia. (2020/09/02) ♡
• Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia. (2020/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Treatment of dilated cardiomyopathy in a mouse model of Friedreich's ataxia using N-acetylcysteine and identification of alterations in microRNA expression that could be involved in its pathogenesis. (2020/09/01) ♡
• Test-retest reliability of the Friedreich's ataxia rating scale. (2020/09/01) ♡
• High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models. (2020/09/01) ♡
• Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons. (2020/08/21) ♡
• Cardiolipin-deficient cells have decreased levels of the iron-sulfur biogenesis protein frataxin. (2020/08/14) ♡
• Distribution of Particles in Human Stem Cell-Derived 3D Neuronal Cell Models: Effect of Particle Size, Charge, and Density. (2020/08/10) ♡
• Onset features and time to diagnosis in Friedreich's Ataxia. (2020/08/03) ♡
• Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy. (2020/08/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Laying the Foundation for Neuromuscular Disease Gene Therapy. (2020/08/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy. (2020/08/01) ♡
• 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. MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration. (2020/08/01) ♡
• 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) ♡

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