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Rare and hereditary disorders
Friedreich's ataxia
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Publications and studies (1112)
- [Risk factors associated to musculoskeletal pathologies in athletes with cavus foot through baropodometric studies]. (2021/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich's Ataxia. (2021/06/29) ♡
- 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: Multidisciplinary Clinical Care. (2021/06/28) ♡
- Quantitative Assessment of Friedreich Ataxia via Self-Drinking Activity. (2021/06/01) ♡
- 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. Riboflavin in Neurological Diseases: A Narrative Review. (2021/06/01) ♡
- Frataxin deficiency promotes endothelial senescence in pulmonary hypertension. (2021/06/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort. (2021/06/01) ♡
- 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. Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia. (2021/06/01) ♡
- 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. Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know. (2021/06/01) ♡
- Iron-sulfur cluster deficiency can be sensed by IRP2 and regulates iron homeostasis and sensitivity to ferroptosis independent of IRP1 and FBXL5. (2021/05/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The cardiomyopathy of Friedreich's ataxia common in a family: A case report. (2021/05/24) ♡
- 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. Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions. (2021/05/17) ♡
- 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. Mitochondrial dysfunction in the development and progression of neurodegenerative diseases. (2021/05/15) ♡
- 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 ventricular unloading with transaortic Impella 2.5 implantation in a pediatric patient supported by extracorporeal life support. (2021/05/01) ♡
- Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia. (2021/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. (2021/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Lessons for clinical trial design in Friedreich's ataxia. (2021/05/01) ♡
- The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure. (2021/05/01) ♡
- Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia. (2021/05/01) ♡
- Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study. (2021/04/13) ♡
- 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. Cardiac Involvement in Movement Disorders. (2021/04/07) ♡
- Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video. (2021/04/06) ♡
- Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia. (2021/04/01) ♡
- Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study. (2021/03/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family. (2021/03/24) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study. (2021/03/01) ♡
- 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: current state-of-the-art, and future prospects for mitochondrial-focused therapies. (2021/03/01) ♡
- Sexual function, intimate relationships and Friedreich ataxia. (2021/03/01) ♡
- Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations. (2021/02/01) ♡
- 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 Omaveloxolone in Friedreich Ataxia (MOXIe Study). (2021/02/01) ♡
- 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. Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies. (2021/02/01) ♡
- 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. Mechanistic concepts of iron-sulfur protein biogenesis in Biology. (2021/01/01) ♡
- PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia. (2021/01/01) ♡
- 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. The role of Nrf2 in neural stem/progenitors cells: From maintaining stemness and self-renewal to promoting differentiation capability and facilitating therapeutic application in neurodegenerative disease. (2021/01/01) ♡
- The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia. (2021/01/01) ♡
- Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia. (2021/01/01) ♡
- An unusual combination of large Eustachian valve in a young patient with Friedreich's ataxia cardiomyopathy. (2021/01/01) ♡
- Objective Assessment of Progression and Disease Characterization of Friedreich Ataxia via an Instrumented Drinking Cup: Preliminary Results. (2021/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) (2021-11-16) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multiple Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia (2021-06-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia (2021-06-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia (2021-06-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Interferon Gamma-1b in Friedreich Ataxia (FRDA) (2021-04-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Rosuvastatin (Crestor) in Friedreich Ataxia (2021-03-25) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Methylprednisolone Treatment of Friedreich Ataxia (2021-03-25) ♡
- Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells. (2020/12/25) ♡
- Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study. (2020/12/21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Essential statistical principles of clinical trials of pain treatments. (2020/12/18) ♡
- 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. Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich's Ataxia. (2020/12/10) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. (2020/12/04) ♡
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