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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study. (2022/05/01) ♡
- In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich's ataxia. (2022/05/01) ♡
- Source of medical information and behavioral seeking patterns in patients affected with Friedreich's ataxia and their caregivers: a survey study. (2022/05/01) ♡
- 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. Recessive cerebellar and afferent ataxias - clinical challenges and future directions. (2022/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia. (2022/05/01) ♡
- Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study. (2022/05/01) ♡
- Simultaneous Quantification of Mitochondrial Mature Frataxin and Extra-Mitochondrial Frataxin Isoform E in Friedreich's Ataxia Blood. (2022/04/28) ♡
- The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes. (2022/04/12) ♡
- 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. Cognitive Dysfunction in Repeat Expansion Diseases: A Review. (2022/04/11) ♡
- The Cost of Living with Inherited Ataxia in Ireland. (2022/04/01) ♡
- Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA. (2022/04/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Friedreich's Ataxia related Diabetes: Epidemiology and management practices. (2022/04/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia. (2022/03/24) ♡
- DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. (2022/03/23) ♡
- 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. Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases. (2022/03/19) ♡
- Modelling Protein Plasticity: The Example of Frataxin and Its Variants. (2022/03/17) ♡
- 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. Aberrant Cerebral Iron Trafficking Co-morbid With Chronic Inflammation: Molecular Mechanisms and Pharmacologic Intervention. (2022/03/15) ♡
- Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia. (2022/03/14) ♡
- 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. Functional MRI Studies in Friedreich's Ataxia: A Systematic Review. (2022/03/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Should Advanced Friedreich's Ataxia Be a Contraindication for Heart Transplantation? A Case Report of a Successful Procedure in a 58-Year-Old Patient. (2022/03/09) ♡
- 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. Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia. (2022/03/02) ♡
- 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 approaches for the treatment and prevention of Friedreich's ataxia. (2022/03/01) ♡
- Downregulation of Three Immune-Specific Core Genes and the Regulatory Pathways in Children and Adult Friedreich's Ataxia: A Comprehensive Analysis Based on Microarray. (2022/02/14) ♡
- Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia. (2022/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. (2022/02/01) ♡
- The dynamin-related protein 1 is decreased and the mitochondrial network is altered in Friedreich's ataxia cardiomyopathy. (2022/02/01) ♡
- 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. Pharmacotherapy of cerebellar and vestibular disorders. (2022/02/01) ♡
- Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay. (2022/01/15) ♡
- 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. Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials. (2022/01/01) ♡
- Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies. (2022/01/01) ♡
- 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. Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. (2022/01/01) ♡
- Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study. (2022/01/01) ♡
- 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 and neurological disorders. (2022/01/01) ♡
- 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. Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia. (2022/01/01) ♡
- 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. Cellular pathophysiology of Friedreich's ataxia cardiomyopathy. (2022/01/01) ♡
- Patient reported quality of life in limb girdle muscular dystrophy. (2022/01/01) ♡
- Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice. (2022/01/01) ♡
- 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 metabolism and neurodegenerative diseases. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study. (2022/01/01) ♡
- Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study. (2022/01/01) ♡
- A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy. (2022/01/01) ♡
- Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL™). (2022/01/01) ♡
- [Spinocerebellar ataxia type 8 in Russian patients]. (2022/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Clinical Study to Evaluate the Effect of MIN-102 on the Progression of Friedreich's Ataxia in Male and Female Patients (2022-10-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker for Friedreich's Ataxia (BioFridA) (2022-08-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia (2022-05-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers (2022-02-24) ♡
- 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 effects in neurological diseases. (2021/12/30) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression. (2021/12/27) ♡
- 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. Ferroptosis and NRF2: an emerging battlefield in the neurodegeneration of Alzheimer's disease. (2021/12/22) ♡
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