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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia (2020-08-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia (2020-04-07) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia (2020-03-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Open Trial of γIFN for Friedreich Ataxia (2020-02-26) ♡
- A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia. (2019/12/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. (2019/12/01) ♡
- 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. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force. (2019/12/01) ♡
- 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 ataxia- pathogenesis and implications for therapies. (2019/12/01) ♡
- Structural analysis of glutathionyl hemoglobin using native mass spectrometry. (2019/12/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Rating scales for rare neurological diseases: What are we learning from Friedreich ataxia? (2019/11/25) ♡
- SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia. (2019/11/18) ♡
- Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity. (2019/11/13) ♡
- 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. Possible Mechanisms of Biological Effects Observed in Living Systems during (2)H/(1)H Isotope Fractionation and Deuterium Interactions with Other Biogenic Isotopes. (2019/11/13) ♡
- Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells. (2019/11/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. "No-No" Head Tremor-A Nod to the Diagnosis. (2019/11/01) ♡
- Open-label pilot study of oral methylprednisolone for the treatment of patients with friedreich ataxia. (2019/11/01) ♡
- Evaluation of antibodies for western blot analysis of frataxin protein isoforms. (2019/11/01) ♡
- Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies. (2019/11/01) ♡
- Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion. (2019/10/30) ♡
- Psychometric properties of the Friedreich Ataxia Rating Scale. (2019/10/29) ♡
- Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs. (2019/10/21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA). (2019/10/15) ♡
- Orphan Drugs In Development For The Treatment Of Friedreich's Ataxia: Focus On Omaveloxolone. (2019/10/15) ♡
- Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients. (2019/10/14) ♡
- Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide. (2019/10/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. (2019/10/01) ♡
- 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. New developments in pharmacotherapy for Friedreich ataxia. (2019/10/01) ♡
- 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. Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia. (2019/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh). (2019/10/01) ♡
- Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures. (2019/10/01) ♡
- Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes. (2019/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Working Life of People with Degenerative Cerebellar Ataxia. (2019/10/01) ♡
- 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. Targeting BDNF signaling by natural products: Novel synaptic repair therapeutics for neurodegeneration and behavior disorders. (2019/10/01) ♡
- Changes detected in swallowing function in Friedreich ataxia over 12 months. (2019/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Repeat Expansion Disorders: Mechanisms and Therapeutics. (2019/10/01) ♡
- Mechanism of activation of the human cysteine desulfurase complex by frataxin. (2019/09/24) ♡
- Characterization of human frataxin missense variants in cancer tissues. (2019/09/01) ♡
- Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression. (2019/09/01) ♡
- Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge. (2019/09/01) ♡
- Measuring peripheral nerve involvement in Friedreich's ataxia. (2019/09/01) ♡
- Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. (2019/09/01) ♡
- Oral mobility reflects rate of progression in advanced Friedreich's ataxia. (2019/09/01) ♡
- Scoliosis in Patients With Friedreich Ataxia: Results of a Consecutive Prospective Series. (2019/09/01) ♡
- Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin. (2019/08/08) ♡
- 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. The impact of histone post-translational modifications in neurodegenerative diseases. (2019/08/01) ♡
- Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia. (2019/08/01) ♡
- 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. Ataxia. (2019/08/01) ♡
- Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells. (2019/07/31) ♡
- Safety and Biodistribution of Human Bone Marrow-Derived Mesenchymal Stromal Cells Injected Intrathecally in Non-Obese Diabetic Severe Combined Immunodeficiency Mice: Preclinical Study. (2019/07/26) ♡
- Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases. (2019/07/19) ♡
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