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Rare and hereditary disorders
Friedreich's ataxia
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Publications (1001)
- 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 avenues of gene therapy in Pompe disease. (2023/10/01) ♡
- Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure. (2023/10/01) ♡
- Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency. (2023/10/01) ♡
- Proprioceptive and tactile processing in individuals with Friedreich ataxia: an fMRI study. (2023/09/22) ♡
- 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 models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application. (2023/09/20) ♡
- 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. Neurologic orphan diseases: Emerging innovations and role for genetic treatments. (2023/09/20) ♡
- Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). (2023/09/09) ♡
- 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 dysfunction in neurodegenerative disorders: Potential therapeutic application of mitochondrial transfer to central nervous system-residing cells. (2023/09/09) ♡
- Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers. (2023/09/08) ♡
- Rationale and protocol of a double-blind, randomized, placebo-controlled trial to test the efficacy, safety, and tolerability of dimethyl fumarate in Friedreich Ataxia (DMF-FA-201). (2023/09/07) ♡
- Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia. (2023/09/07) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions. (2023/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia. (2023/09/01) ♡
- 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. How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function? (2023/09/01) ♡
- Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia. (2023/08/28) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich's ataxia mouse model. (2023/08/28) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Dyclonine relieves the Parkinson's disease progression in rotenone-induced Drosophila model. (2023/08/24) ♡
- Ataxia. (2023/08/23) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype. (2023/08/19) ♡
- Interferon Gamma Enhances Cytoprotective Pathways via Nrf2 and MnSOD Induction in Friedreich's Ataxia Cells. (2023/08/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia. (2023/08/07) ♡
- Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function. (2023/08/01) ♡
- 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. Anodal Cerebellar Transcranial Direct Current Stimulation Reduces Motor and Cognitive Symptoms in Friedreich's Ataxia: A Randomized, Sham-Controlled Trial. (2023/08/01) ♡
- Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia. (2023/08/01) ♡
- 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. Targeted Therapies in Pediatric and Adult Patients With Hypertrophic Heart Disease: From Molecular Pathophysiology to Personalized Medicine. (2023/08/01) ♡
- Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app. (2023/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: "Non-GAA Repeat Expansions in FGF-14 Are Likely Not Pathogenic". (2023/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family". (2023/08/01) ♡
- Halogens engineering-based design of agonists for boosting expression of frataxin protein in Friedreich's ataxia. (2023/08/01) ♡
- Patient-reported impact of symptoms in lung cancer (PRISM-LC). (2023/07/31) ♡
- PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients. (2023/07/26) ♡
- Brain MRI detects early-stage alterations and disease progression in Friedreich ataxia. (2023/07/06) ♡
- 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. Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia. (2023/07/01) ♡
- Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia. (2023/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Experimental drugs for Friedreich's ataxia: progress and setbacks in clinical trials. (2023/07/01) ♡
- A Bayesian Network Approach for Friedreich Ataxia Severity Classification using Probability Modelling. (2023/07/01) ♡
- A Novel Feature from Instrumented Utensils for Clinical Assessment of Friedreich Ataxia. (2023/07/01) ♡
- Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy. (2023/06/29) ♡
- Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation. (2023/06/19) ♡
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. (2023/06/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1. (2023/06/12) ♡
- 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. Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do. (2023/06/11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers. (2023/06/01) ♡
- Blood RNA transcripts reveal similar and differential alterations in fundamental cellular processes in Alzheimer's disease and other neurodegenerative diseases. (2023/06/01) ♡
- Omaveloxolone (Skyclarys(TM)) for patients with Friedreich's ataxia. (2023/06/01) ♡
- 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. Omaveloxolone: First Approval. (2023/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Preparing for Disease-Modification Trials in Degenerative Cerebellar Ataxias: Which Endpoints to Choose? (2023/06/01) ♡
- Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines. (2023/05/29) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Upside-Down Preference in the Forskolin-Induced In Vitro Differentiation of 50B11 Sensory Neurons: A Morphological Investigation by Label-Free Non-Linear Microscopy. (2023/05/06) ♡
- Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3. (2023/05/05) ♡
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