| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/9.2.275 |
| P698 | PubMed publication ID | 10607838 |
| P50 | author | Anthony H V Schapira | Q66915960 |
| J M Cooper | Q67222365 | ||
| P2093 | author name string | S Chamberlain | |
| P K Thomas | |||
| J L Bradley | |||
| J C Blake | |||
| P433 | issue | 2 | |
| P921 | main subject | Friedreich ataxia | Q913856 |
| P304 | page(s) | 275-282 | |
| P577 | publication date | 2000-01-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia | |
| P478 | volume | 9 |
| Q34172946 | (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
| Q82023250 | A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia |
| Q47071728 | Altered lipid metabolism in a Drosophila model of Friedreich's ataxia. |
| Q35090105 | Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome |
| Q35544819 | Antioxidant enzymes in blood of patients with Friedreich's ataxia. |
| Q41974951 | Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells. |
| Q54784561 | Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients. |
| Q38817091 | Autoimmunity in visual loss. |
| Q31078351 | Autosomal recessive cerebellar ataxias |
| Q35137677 | Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia. |
| Q37605018 | Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities |
| Q41892544 | Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response |
| Q37217435 | Cellular stress response: a novel target for chemoprevention and nutritional neuroprotection in aging, neurodegenerative disorders and longevity. |
| Q34150158 | Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia |
| Q36736797 | Clinical features and molecular genetics of autosomal recessive cerebellar ataxias |
| Q48863338 | Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia |
| Q46084447 | Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia. |
| Q34856408 | Cytopathies involving mitochondrial complex II. |
| Q34143936 | Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia |
| Q28488251 | Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia |
| Q43640204 | Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron |
| Q33936940 | Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts |
| Q55073764 | Drosophila melanogaster Models of Friedreich's Ataxia. |
| Q39419474 | Drosophila melanogaster Models of Metal-Related Human Diseases and Metal Toxicity |
| Q38219414 | Epigenetic-based therapies for Friedreich ataxia |
| Q36663928 | Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy |
| Q64093623 | Erythropoietin and Friedreich Ataxia: Time for a Reappraisal? |
| Q34235344 | Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts |
| Q35046921 | Estrogen protection in Friedreich's ataxia skin fibroblasts |
| Q35949121 | Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34 |
| Q35076898 | Frataxin and frataxin deficiency in Friedreich's ataxia |
| Q46904206 | Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans. |
| Q42678097 | Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model |
| Q39168480 | Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons |
| Q39006290 | Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis |
| Q34135061 | Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia. |
| Q98721395 | Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies |
| Q28593887 | Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia |
| Q34984786 | Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus |
| Q34524337 | Friedreich ataxia: a paradigm for mitochondrial diseases |
| Q50887821 | Friedreich ataxia: executive control is related to disease onset and GAA repeat length. |
| Q28200651 | Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency |
| Q34076650 | Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities |
| Q36908185 | Friedreich ataxia: new pathways |
| Q26830073 | Friedreich's Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis |
| Q73702692 | Friedreich's ataxia |
| Q78747075 | Friedreich's ataxia |
| Q34101152 | Friedreich's ataxia and iron metabolism |
| Q35172410 | Friedreich's ataxia: treatment within reach |
| Q33856264 | Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain |
| Q33743762 | GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology |
| Q35140340 | Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients. |
| Q28540063 | Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models |
| Q34997868 | Genetic ataxia |
| Q39253252 | Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage |
| Q34075023 | Hepatic mitochondrial dysfunction in Friedreich ataxia |
| Q47664042 | Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management |
| Q34384188 | Histopathology and molecular genetics of hearing loss in the human |
| Q57175221 | Identification of cardioprotective drugs by medium-scale pharmacological screening on a cardiac model of Friedreich's ataxia |
| Q40724973 | Impact of endogenous nitric oxide on microglial cell energy metabolism and labile iron pool |
| Q30469947 | Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome |
| Q41673379 | In Vivo Assessment of Mitochondrial Dysfunction in Clinical Populations Using Near-Infrared Spectroscopy |
| Q24304209 | In vivo maturation of human frataxin |
| Q47134420 | Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia |
| Q52551613 | Inhibition of heme biosynthesis prevents transcription of iron uptake genes in yeast. |
| Q39330763 | Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids |
| Q96135612 | Integrated analysis of the molecular pathogenesis of FDXR-associated disease |
| Q34100135 | Intracellular iron transport and storage: from molecular mechanisms to health implications |
| Q35112542 | Iron in neurodegenerative disorders |
| Q64388349 | Iron(II) induces changes in the conformation of mammalian mitochondrial DNA resulting in a reduction of its transcriptional rate |
| Q37821334 | Iron-dependent functions of mitochondria--relation to neurodegeneration |
| Q27934042 | Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia |
| Q26850111 | Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery |
| Q46403225 | Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics. |
| Q73590841 | Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes |
| Q24305348 | Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism |
| Q34546241 | Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals |
| Q28551371 | Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia |
| Q35551003 | Making Yeast Tremble: Yeast Models as Tools to Study Neurodegenerative Disorders |
| Q77323923 | Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells |
| Q37765635 | Mapping brain metals to evaluate therapies for neurodegenerative disease |
| Q36081561 | Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease |
| Q28592188 | Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease |
| Q37322156 | Mitochondrial dysfunction in neurodegenerative diseases. |
| Q33634010 | Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism |
| Q37686294 | Mitochondrial metals as a potential therapeutic target in neurodegeneration |
| Q33832717 | Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects |
| Q48806747 | Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells |
| Q44234584 | Modulation of Lon protease activity and aconitase turnover during aging and oxidative stress. |
| Q37480278 | Molecular and clinical investigation of Iranian patients with Friedreich ataxia. |
| Q37509253 | Molecular basis of asbestos-induced lung disease |
| Q34688287 | Molecular insights into Friedreich's ataxia and antioxidant-based therapies |
| Q33817381 | MutLα heterodimers modify the molecular phenotype of Friedreich ataxia |
| Q37052023 | Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress |
| Q44805871 | Neurodegenerative diseases and oxidative stress |
| Q37963369 | Neuroprotection: the emerging concept of restorative neural stem cell biology for the treatment of neurodegenerative diseases |
| Q34452330 | Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia |
| Q37299615 | Oxidative stress and neurodegenerative diseases: a review of upstream and downstream antioxidant therapeutic options |
| Q27024861 | Oxidative stress and pulmonary fibrosis |
| Q74301118 | Oxidative-phosphorylation defects in liver of patients with Wilson's disease |
| Q41548664 | Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia |
| Q46901522 | Phosphorus-31 two-dimensional chemical shift imaging in the myocardium of patients with late onset of Friedreich ataxia |
| Q34757220 | Primary and secondary defects of the mitochondrial respiratory chain |
| Q28743986 | Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model |
| Q58862469 | Quantification of regional right and left ventricular function by ultrasonic strain rate and strain indexes in Friedreich’s ataxia |
| Q44810614 | Role of oxidative damage in Friedreich's ataxia |
| Q28344463 | Sensitivity of respiratory chain activities to lipid peroxidation: effect of vitamin E deficiency |
| Q28292543 | The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals |
| Q64040115 | The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models |
| Q36392945 | The cerebellum as a target for estrogen action |
| Q35545150 | The crucial role of metal ions in neurodegeneration: the basis for a promising therapeutic strategy |
| Q28475804 | The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia |
| Q37414028 | The pathogenesis of Friedreich ataxia and the structure and function of frataxin |
| Q37418894 | The power of yeast to model diseases of the powerhouse of the cell. |
| Q37748496 | The role of echocardiographic deformation imaging in hypertrophic myopathies. |
| Q47339311 | The role of oxidative stress in Friedreich's ataxia |
| Q26861733 | Therapeutic developments in Friedreich ataxia |
| Q86598423 | Therapeutic strategies in Friedreich's ataxia |
| Q42773797 | Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia |
| Q36916695 | Use of tissue Doppler imaging to identify and manage systemic diseases |
| Q54426325 | Variations of frataxin protein levels in normal individuals. |
| Q38352449 | Zinc suppresses the iron-accumulation phenotype of Saccharomyces cerevisiae lacking the yeast frataxin homologue (Yfh1). |
| Q83233467 | [The various forms of left ventricular hypertrophy: diagnostic value of echocardiography] |
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