| scholarly article | Q13442814 |
| P356 | DOI | 10.1586/ERC.12.57 |
| P698 | PubMed publication ID | 22894632 |
| P2093 | author name string | David R Lynch | |
| Martin G St John Sutton | |||
| Kimberly A Schadt | |||
| Kimberly Y Lin | |||
| Lisa S Friedman | |||
| Sean R Regner | |||
| P2860 | cites work | Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool | Q24307608 |
| HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model | Q27301415 | ||
| Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex | Q27670917 | ||
| Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin | Q27935734 | ||
| The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene | Q28139576 | ||
| Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin | Q28244947 | ||
| Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes | Q28249379 | ||
| Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia | Q28250989 | ||
| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion | Q28275699 | ||
| Clinical and genetic abnormalities in patients with Friedreich's ataxia | Q28290611 | ||
| Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes | Q28297330 | ||
| Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model | Q28472583 | ||
| A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design | Q28477407 | ||
| Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits | Q28505173 | ||
| Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model | Q28743986 | ||
| Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome | Q30469947 | ||
| Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature | Q33229193 | ||
| Proteomic analysis of hearts from frataxin knockout mice: marked rearrangement of energy metabolism, a response to cellular stress and altered expression of proteins involved in cell structure, motility and metabolism | Q33323705 | ||
| PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia | Q33552305 | ||
| The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner | Q33616633 | ||
| Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. | Q33701891 | ||
| Iron-Overload Cardiomyopathy: Pathophysiology, Diagnosis, and Treatment | Q33740236 | ||
| GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology | Q33743762 | ||
| Molecular pathogenesis of Friedreich ataxia | Q33751669 | ||
| Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts | Q33936940 | ||
| Friedreich's ataxia: the vicious circle hypothesis revisited | Q34045081 | ||
| Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia | Q34118190 | ||
| Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring | Q34200598 | ||
| A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia | Q34376985 | ||
| 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines | Q34633760 | ||
| Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy | Q34646029 | ||
| Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review. | Q34668061 | ||
| Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial | Q34682814 | ||
| Friedreich ataxia | Q34851882 | ||
| Diet-induced lethality due to deletion of the Hdac3 gene in heart and skeletal muscle | Q35312286 | ||
| A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model | Q35770976 | ||
| Left ventricular function in Friedreich's ataxia. An echocardiographic study | Q36775262 | ||
| The heart in Friedreich's ataxia | Q36920826 | ||
| Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers | Q37217378 | ||
| Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia | Q37223281 | ||
| The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood | Q37248346 | ||
| The pathogenesis of Friedreich ataxia and the structure and function of frataxin | Q37414028 | ||
| Familial hypertrophic cardiomyopathy: basic concepts and future molecular diagnostics | Q37422626 | ||
| Pharmacotherapy for Friedreich ataxia | Q37423316 | ||
| The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia. | Q37649579 | ||
| Feasibility of implantable cardioverter defibrillator treatment in five patients with familial Friedreich's ataxia--a case series. | Q37811095 | ||
| A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. | Q37902766 | ||
| Erythropoietin: a future therapy for failing hearts? | Q37952603 | ||
| A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia | Q38371318 | ||
| Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. | Q40241487 | ||
| Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations | Q41859432 | ||
| Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up | Q42616755 | ||
| Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up | Q42653222 | ||
| Friedreich's ataxia presenting after cardiac transplantation | Q43101336 | ||
| Mortality in Friedreich ataxia | Q43524683 | ||
| Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study. | Q43737617 | ||
| Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. | Q44267966 | ||
| Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial | Q44456527 | ||
| L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial | Q45104023 | ||
| Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial | Q46401824 | ||
| High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia | Q46761962 | ||
| Increased IRP1 activity in Friedreich ataxia | Q47776627 | ||
| Selective iron chelation in Friedreich ataxia: biologic and clinical implications | Q48231374 | ||
| Friedreich's ataxia. Revision of the phenotype according to molecular genetics | Q48552938 | ||
| Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases | Q49143960 | ||
| Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia. | Q50669024 | ||
| Myocardial Scar Visualized by Cardiovascular Magnetic Resonance Imaging Predicts Major Adverse Events in Patients With Hypertrophic Cardiomyopathy | Q51149024 | ||
| Permanent use of a ventricle assist device for dilated cardiomyopathy in Friedreich's ataxia. | Q51279471 | ||
| Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia. | Q51555749 | ||
| Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy. | Q53508140 | ||
| Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia | Q54975386 | ||
| Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia | Q57203466 | ||
| Quantification of regional right and left ventricular function by ultrasonic strain rate and strain indexes in Friedreich’s ataxia | Q58862469 | ||
| Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia | Q59297481 | ||
| P433 | issue | 6 | |
| P921 | main subject | cardiomyopathy | Q847583 |
| Friedreich ataxia | Q913856 | ||
| P304 | page(s) | 767-777 | |
| P577 | publication date | 2012-06-01 | |
| P1433 | published in | Expert Review of Cardiovascular Therapy | Q15733727 |
| P1476 | title | Management and therapy for cardiomyopathy in Friedreich's ataxia | |
| P478 | volume | 10 |
| Q46341439 | Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency |
| Q91735207 | Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells |
| Q38784205 | Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example |
| Q35891311 | Friedreich Ataxia and nephrotic syndrome: a series of two patients |
| Q58565564 | Neuromuscular diseases with hypertrophic cardiomyopathy |
| Q92089407 | Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells |
| Q47556768 | Repeat expansion diseases |
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