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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)

• 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 neuropathology of the adult cerebellum. (2018/01/01) ♡
• 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. Scales for the clinical evaluation of cerebellar disorders. (2018/01/01) ♡
• 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. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. (2018/01/01) ♡
• 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. Neuroimaging Applications in Chronic Ataxias. (2018/01/01) ♡
• Depressive symptoms in Friedreich ataxia. (2018/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) (2018-12-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) (2018-03-05) ♡
• Synthetic transcription elongation factors license transcription across repressive chromatin. (2017/12/22) ♡
• Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play? (2017/12/22) ♡
• 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. Copper and Zinc Homeostasis: Lessons from Drosophila melanogaster. (2017/12/21) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia. (2017/12/19) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia. (2017/12/19) ♡
• Somatic instability of the expanded GAA repeats in Friedreich's ataxia. (2017/12/19) ♡
• Insights on the conformational dynamics of human frataxin through modifications of loop-1. (2017/12/15) ♡
• Development of an iron-selective antioxidant probe with protective effects on neuronal function. (2017/12/11) ♡
• Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators. (2017/12/04) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Overexpression of Drosophila frataxin triggers cell death in an iron-dependent manner. (2017/12/01) ♡
• Molecular Alterations in a Mouse Cardiac Model of Friedreich Ataxia: An Impaired Nrf2 Response Mediated via Upregulation of Keap1 and Activation of the Gsk3β Axis. (2017/12/01) ♡
• 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. Friedreich's ataxia: clinical features, pathogenesis and management. (2017/12/01) ♡
• Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. (2017/12/01) ♡
• Rapid neurophysiological screening for sensory ganglionopathy: A novel approach. (2017/11/24) ♡
• Detection of long repeat expansions from PCR-free whole-genome sequence data. (2017/11/01) ♡
• 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 Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. (2017/11/01) ♡
• Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone. (2017/11/01) ♡
• Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector. (2017/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. (2017/11/01) ♡
• Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. (2017/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia. (2017/10/25) ♡
• Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia. (2017/10/18) ♡
• Lipophilic methylene violet analogues as modulators of mitochondrial function and dysfunction. (2017/10/15) ♡
• Erratum: Selected missense mutations impair frataxin processing in Friedreich ataxia. (2017/10/10) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. (2017/10/03) ♡
• Dysphagia in Friedreich Ataxia. (2017/10/01) ♡
• Atrophic degeneration of cerebellum impairs both the reactive and the proactive control of movement in the stop signal paradigm. (2017/10/01) ♡
• Triphenylphosphonium-desferrioxamine as a candidate mitochondrial iron chelator. (2017/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mechanisms of unexpected death and autopsy findings in Friedreich ataxia. (2017/10/01) ♡
• Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms. (2017/10/01) ♡
• 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. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. (2017/09/26) ♡
• Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia. (2017/09/26) ♡
• A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)(n) Repeats Associated with Friedreich's Ataxia. (2017/09/05) ♡
• Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo. (2017/09/01) ♡
• 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. Pharmacological therapeutics in Friedreich ataxia: the present state. (2017/09/01) ♡
• Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice. (2017/08/30) ♡
• Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia. (2017/08/29) ♡
• Mechanisms of iron and copper-frataxin interactions. (2017/08/16) ♡
• Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders. (2017/08/15) ♡
• Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. (2017/08/01) ♡
• Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells. (2017/08/01) ♡
• Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI. (2017/08/01) ♡
• Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. (2017/08/01) ♡

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