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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)

• How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? (2017/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia. (2017/08/01) ♡
• [Advances in Neurological Therapeutics for Friedreich Ataxia and Machado-Joseph Disease]. (2017/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia. (2017/08/01) ♡
• Impact of diabetes in the Friedreich ataxia clinical outcome measures study. (2017/07/26) ♡
• No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells. (2017/07/20) ♡
• Nicotinamide mononucleotide requires SIRT3 to improve cardiac function and bioenergetics in a Friedreich's ataxia cardiomyopathy model. (2017/07/20) ♡
• Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans. (2017/07/15) ♡
• Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients. (2017/07/12) ♡
• Structure of human Fe-S assembly subcomplex reveals unexpected cysteine desulfurase architecture and acyl-ACP-ISD11 interactions. (2017/07/03) ♡
• 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. [Risk genes in myopathies and mitochondrial diseases]. (2017/07/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later. (2017/07/01) ♡
• Selected missense mutations impair frataxin processing in Friedreich ataxia. (2017/06/29) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editor's update and selected articles from the journal of the neurological sciences. (2017/06/15) ♡
• New Techniques for Ancient Proteins: Direct Coupling Analysis Applied on Proteins Involved in Iron Sulfur Cluster Biogenesis. (2017/06/15) ♡
• Longitudinal gait and balance decline in Friedreich's Ataxia: A pilot study. (2017/06/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. (2017/06/01) ♡
• Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency. (2017/05/30) ♡
• Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy. (2017/05/25) ♡
• 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. Nrf2, cellular redox regulation, and neurologic implications. (2017/05/16) ♡
• Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. (2017/05/01) ♡
• 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. Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations. (2017/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac transplantation in Friedreich Ataxia: Extended follow-up. (2017/04/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. New hearts for Friedreich patients. (2017/04/15) ♡
• 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. Friedreich Ataxia: current status and future prospects. (2017/04/07) ♡
• 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. Targeting Class I Histone Deacetylases in a "Complex" Environment. (2017/04/01) ♡
• A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I. (2017/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. (2017/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. High Titer of Circulating Antiglutamic Acid Decarboxylase Antibodies in a Patient with Cerebellar Ataxia and Type 1 Diabetes. (2017/03/01) ♡
• E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. (2017/02/21) ♡
• The time dimension of neurodegeneration: the example of Friedreich's ataxia. (2017/02/20) ♡
• Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. (2017/02/01) ♡
• 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. miRNAs as biomarkers of neurodegenerative disorders. (2017/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. (2017/02/01) ♡
• Stability of erythropoietin repackaging in polypropylene syringes for clinical use. (2017/02/01) ♡
• Comparison of Two Different PCR-based Methods for Detection of GAA Expansions in Frataxin Gene. (2017/02/01) ♡
• Otoneurological Abnormalities in Patients with Friedreich's Ataxia. (2017/01/01) ♡
• 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 iron-sulfur cluster biogenesis from molecular understanding to clinical disease. (2017/01/01) ♡
• 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. Huntington's Disease and Diabetes: Chronological Sequence of its Association. (2017/01/01) ♡
• 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. Trinucleotide repeat disorders. (2017/01/01) ♡
• 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. Do whole body vibration exercises affect lower limbs neuromuscular activity in populations with a medical condition? A systematic review. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effect of Nicotinamide in Friedreich's Ataxia (2017-07-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients (2017-04-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia (2016-11-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia (2016-09-19) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. EPI-743 in Friedreich's Ataxia Point Mutations (2016-06-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients (2016-06-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia (2016-04-12) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) (2016-03-09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy Study of Epoetin Alfa in Friedreich Ataxia (2015-08-11) ♡

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