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Rare and hereditary disorders
Friedreich's ataxia
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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. Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders. (2021/12/21) ♡
- Transcriptional Analysis of Nuclear-Encoded Mitochondrial Genes in Eight Neurodegenerative Disorders: The Analysis of Seven Diseases in Reference to Friedreich's Ataxia. (2021/12/20) ♡
- A pathogenic role for histone H3 copper reductase activity in a yeast model of Friedreich's ataxia. (2021/12/17) ♡
- Friedreich cardiomyopathy is a desminopathy. (2021/12/13) ♡
- Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients. (2021/12/09) ♡
- Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich's Ataxia. (2021/12/08) ♡
- 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 first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation. (2021/12/01) ♡
- 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. Recent developments of HDAC inhibitors: Emerging indications and novel molecules. (2021/12/01) ♡
- Myocardial Perfusion Reserve in Children with Friedreich Ataxia. (2021/12/01) ♡
- 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. Designing phase II clinical trials in Friedreich ataxia. (2021/12/01) ♡
- 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. Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis. (2021/12/01) ♡
- 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. Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial. (2021/12/01) ♡
- Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study. (2021/11/30) ♡
- 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. Nuclear Factor Erythroid-2-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders. (2021/11/26) ♡
- Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation. (2021/11/25) ♡
- A Combined Spectroscopic and In Silico Approach to Evaluate the Interaction of Human Frataxin with Mitochondrial Superoxide Dismutase. (2021/11/25) ♡
- Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression. (2021/11/18) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Body Mass Index and Height in Friedreich Ataxia: What Do We Know? (2021/11/12) ♡
- Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study. (2021/11/12) ♡
- Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study. (2021/11/01) ♡
- Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up. (2021/11/01) ♡
- Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia. (2021/11/01) ♡
- 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. Coenzyme Q10 a mitochondrial restorer for various brain disorders. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Left atrial appendage thrombosis in a patient with Friedreich Ataxia-related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation. (2021/10/30) ♡
- 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. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. (2021/10/25) ♡
- Rad9-mediated checkpoint activation is responsible for elevated expansions of GAA repeats in CST-deficient yeast. (2021/10/02) ♡
- Mechanisms of impaired mitochondrial homeostasis and NAD(+) metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation. (2021/10/01) ♡
- Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group. (2021/10/01) ♡
- Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). (2021/09/23) ♡
- Adaptation of the heart to Frataxin depletion: Evidence that integrated stress response can predominate over mTORC1 activation. (2021/09/22) ♡
- Construction of DNA/RNA Triplex Helices Based on GAA/TTC Trinucleotide Repeats. (2021/09/20) ♡
- The Effects of Two Nrf2 Activators, Bardoxolone Methyl and Omaveloxolone, on Retinal Ganglion Cell Survival during Ischemic Optic Neuropathy. (2021/09/15) ♡
- Digital endpoints for self-administered home-based functional assessment in pediatric Friedreich's ataxia. (2021/09/01) ♡
- Would Francisco Soca have been the first to relate toe phenomenon as pyramidal disorders? (2021/09/01) ♡
- A mitochondrial membrane-bridging machinery mediates signal transduction of intramitochondrial oxidation. (2021/09/01) ♡
- Steroidogenic electron-transfer factors and their diseases. (2021/09/01) ♡
- Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations. (2021/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia. (2021/08/18) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Author Correction: Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice. (2021/08/09) ♡
- 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 Ferritin: Its Role in Physiological and Pathological Conditions. (2021/08/03) ♡
- Retracted publicationiThis research has been withdrawn by science itself, for example due to a flaw in the method or unreliable data. Do not use it as support and do not discuss it as evidence. Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type. (2021/07/23) ♡
- 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. Neuro-Ophthalmological Findings in Friedreich's Ataxia. (2021/07/23) ♡
- 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, Iron, and Manganese Toxicity in Neuropsychiatric Conditions. (2021/07/22) ♡
- A Combined Drug Treatment That Reduces Mitochondrial Iron and Reactive Oxygen Levels Recovers Insulin Secretion in NAF-1-Deficient Pancreatic Cells. (2021/07/21) ♡
- Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report. (2021/07/15) ♡
- Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner. (2021/07/13) ♡
- 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 Role of Voltage-Dependent Anion Channel in Mitochondrial Dysfunction and Human Disease. (2021/07/09) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy. (2021/07/01) ♡
- Generation of a Friedreich's Ataxia patient-derived iPSC line USFi001-A. (2021/07/01) ♡
- Generation of transgene-free iPSC lines from three patients with Friedreich's ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene. (2021/07/01) ♡
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