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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. Yeast as a Tool for Deeper Understanding of Human Manganese-Related Diseases. (2019/07/17) ♡
- The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C. (2019/07/15) ♡
- Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. (2019/07/09) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Mapping proprioceptive function using corticokinematic coherence in ataxias. (2019/07/09) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells. (2019/07/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Epicardial ablation for ventricular tachycardia in Friedreich's ataxia cardiomyopathy. (2019/07/01) ♡
- 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. Degenerative and acquired sporadic adult onset ataxia. (2019/07/01) ♡
- An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia. (2019/07/01) ♡
- 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. The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting. (2019/06/28) ♡
- Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia. (2019/06/07) ♡
- Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia. (2019/06/03) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone. (2019/06/01) ♡
- Probing the multifactorial source of hand dysfunction in Friedreich ataxia. (2019/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Peripapillary retinal nerve fibre layer thickness in Friedreich's ataxia: a biomarker for trials? (2019/06/01) ♡
- p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia. (2019/05/31) ♡
- Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis. (2019/05/30) ♡
- Deuterated Polyunsaturated Fatty Acids Reduce Oxidative Stress and Extend the Lifespan of C. elegans. (2019/05/28) ♡
- Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism. (2019/05/17) ♡
- 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. Association between restless legs syndrome and other movement disorders. (2019/05/14) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study. (2019/05/01) ♡
- 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. Erythropoietin and Friedreich Ataxia: Time for a Reappraisal? (2019/04/24) ♡
- 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. Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates. (2019/04/17) ♡
- 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 the Antioxidant Response in Mitochondrial Dysfunction in Degenerative Diseases: Cross-Talk between Antioxidant Defense, Autophagy, and Apoptosis. (2019/04/07) ♡
- A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil. (2019/04/01) ♡
- Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia. (2019/04/01) ♡
- 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 Prospects for Friedreich's Ataxia. (2019/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Expanding the genetic basis of ataxia. (2019/04/01) ♡
- 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. Targeted Oligonucleotides for Treating Neurodegenerative Tandem Repeat Diseases. (2019/04/01) ♡
- New Insights into the Hepcidin-Ferroportin Axis and Iron Homeostasis in iPSC-Derived Cardiomyocytes from Friedreich's Ataxia Patient. (2019/03/27) ♡
- Needs management in families affected by childhood-onset dystrophinopathies. (2019/03/02) ♡
- Genetic basis of hypertrophic cardiomyopathy in children. (2019/03/01) ♡
- Developmental and neurodegenerative damage in Friedreich's ataxia. (2019/03/01) ♡
- Gene Therapy Briefs. (2019/03/01) ♡
- 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. Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia. (2019/02/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Identification of a novel missense mutation in Friedreich's ataxia -FXN(W) (168R). (2019/02/21) ♡
- Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures. (2019/02/08) ♡
- 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. Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. (2019/01/14) ♡
- 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. Ironing out the Brain. (2019/01/14) ♡
- Ion Mobility-Mass Spectrometry Reveals Details of Formation and Structure for GAA·TCC DNA and RNA Triplexes. (2019/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A new MRI marker of ataxia with oculomotor apraxia. (2019/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms. (2019/01/01) ♡
- Aluminum in neurological disease - a 36 year multicenter study. (2019/01/01) ♡
- 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. Brain Iron Metabolism and CNS Diseases. (2019/01/01) ♡
- 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. Iron Pathophysiology in Friedreich's Ataxia. (2019/01/01) ♡
- 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. Diagnostics and Treatments of Iron-Related CNS Diseases. (2019/01/01) ♡
- [Diagnostic algorithm for autosomal recessive ataxia]. (2019/01/01) ♡
- 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. Frataxin Structure and Function. (2019/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. (+) Epicatechin to Treat Friedreich's Ataxia (2019-12-05) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Idebenone to Treat Friedreich's Ataxia (2019-03-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia (2019-02-26) ♡
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