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Rare and hereditary disorders
Friedreich's ataxia
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Publications (1001)
- SUMO protease FUG1, histone reader AL3 and chromodomain protein LHP1 are integral to repeat expansion-induced gene silencing in Arabidopsis thaliana. (2024/05/01) ♡
- Mapping Novel Frataxin Mitochondrial Networks Through Protein-Protein Interactions. (2024/04/26) ♡
- 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. Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview. (2024/04/26) ♡
- 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. A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia. (2024/04/01) ♡
- Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort. (2024/04/01) ♡
- Multiple urinary peptides display distinct sex-specific distribution. (2024/03/01) ♡
- Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study. (2024/03/01) ♡
- Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics. (2024/03/01) ♡
- Free-Water Imaging in Friedreich Ataxia Using Multi-Compartment Models. (2024/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy. (2024/02/01) ♡
- Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. (2024/02/01) ♡
- 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. Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle. (2024/02/01) ♡
- Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene. (2024/02/01) ♡
- Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients. (2024/02/01) ♡
- Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman. (2024/02/01) ♡
- 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. Recent progress and applications of small molecule inhibitors of Keap1-Nrf2 axis for neurodegenerative diseases. (2024/01/15) ♡
- Structural peculiarities of tandem repeats and their clinical significance. (2024/01/15) ♡
- Loss of filamentous actin, tight junction protein expression, and paracellular barrier integrity in frataxin-deficient human brain microvascular endothelial cells-implications for blood-brain barrier physiology in Friedreich's ataxia. (2024/01/11) ♡
- Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data. (2024/01/01) ♡
- 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. Management of Friedreich Ataxia-Associated Cardiomyopathy in Pregnancy: A Review of the Literature. (2024/01/01) ♡
- Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. (2024/01/01) ♡
- Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rationale, recent advances, and future perspectives. (2024/01/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. ISFAR Reiterates Its Defense of Moderate Alcohol Consumption's Health Benefits. (2024/01/01) ♡
- Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. (2024/01/01) ♡
- 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. Recent Advances in the Treatment Strategies of Friedreich's Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms. (2024/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Expression and processing of mature human frataxin after gene therapy in mice. (2023/12/28) ♡
- Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models. (2023/12/21) ♡
- A kinetic model of iron trafficking in growing Saccharomyces cerevisiae cells; applying mathematical methods to minimize the problem of sparse data and generate viable autoregulatory mechanisms. (2023/12/19) ♡
- Perspectives of the Friedreich ataxia community on gene therapy clinical trials. (2023/12/18) ♡
- 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. Friedreich's ataxia: new insights. (2023/12/14) ♡
- AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons. (2023/12/14) ♡
- 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. Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases. (2023/12/13) ♡
- 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. Apixaban for Prevention of Thromboembolism in Pediatric Heart Disease. (2023/12/12) ♡
- Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain. (2023/12/08) ♡
- Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia. (2023/12/07) ♡
- Correction to Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). (2023/12/01) ♡
- End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases. (2023/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? (2023/12/01) ♡
- Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy. (2023/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia. (2023/11/23) ♡
- The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia. (2023/11/13) ♡
- Domain-Selective BET Ligands Yield Next-Generation Synthetic Genome Readers/Regulators with Nonidentical Cellular Functions. (2023/11/03) ♡
- Effectiveness of rehabilitation intervention in persons with Friedreich ataxia. (2023/11/02) ♡
- Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset. (2023/11/01) ♡
- 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. Involvement of Coenzyme Q10 in Various Neurodegenerative and Psychiatric Diseases. (2023/11/01) ♡
- Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia. (2023/10/31) ♡
- Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy. (2023/10/27) ♡
- CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum. (2023/10/11) ♡
- The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients. (2023/10/01) ♡
- How Great a Risk Do You Take? A Qualitative Study Exploring Attitudes of Individuals with Friedreich Ataxia Toward Gene Therapy. (2023/10/01) ♡
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