Keywords: آتاکسی فریدریش; Friedreich's ataxia; Conformational dynamics; Backbone motions; Protein engineering; CPMG; Carr-Purcell-Meiboom-Gill; CTR; C-terminal region; FXN; frataxin; hnNOE; heteronuclear 1H-15N NOE; HSQC; heteronuclear single quantum coherence; Rex; contribu
مقالات ISI آتاکسی فریدریش (ترجمه نشده)
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Keywords: آتاکسی فریدریش; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; AT; ataxia telangiectasia; BER; base excision repair; BFB; breakage-fusion-bridge; BMDCs; bone marrow-derived cells; BS; Bloom syndrome; CIN; chromosome instability; CNS; central nervous syste
Keywords: آتاکسی فریدریش; Gait; Balance; Cerebellar ataxia; Friedreich's ataxia;
Keywords: آتاکسی فریدریش; FA; Friedreich's ataxia; Fxn; frataxin; HAs; human astrocytes; shRNA; short hairpin RNA; ACM; astrocyte conditioned medium; Friedreich's ataxia; Astrocytes; Cell death; Apoptosis; Neurotoxicity; Neurodegeneration;
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Lipid peroxidation; Mitochondria; Oxidative stress; Poly-unsaturated fatty acids; Nuclear factor E2 related factor;
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Spinocerebellar ataxia; Autosomal recessive cerebellar ataxia; Autosomal dominant cerebellar ataxia; SCA; Hereditary ataxia; Expanded triplet repeat disorders;
Keywords: آتاکسی فریدریش; Friedreich's ataxia; FXN; Twinkle; POLG1; MT-DLoop; mtDNAAtaxie de Friedreich; FXN; C10orf2; POLG1; D-Loop; ADNmt
Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Frataxin; Gene activation; ss-siRNAs; Antisense oligonucleotides;
Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity
Keywords: آتاکسی فریدریش; Cysteine desulfurase; Friedreich's ataxia; Iron-sulfur cluster; ISCU; Zinc; ACP; acyl carrier transfer protein; BLI; BioLayer interferometry; BSA; bovine serum albumin; CD; circular dichroism; DMPD; N,N-dimethyl-p-phenylenediamine; DSF; differential scann
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Quantitative proteomics; Frataxin; Mitochondrial metabolism;
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients
Keywords: آتاکسی فریدریش; Friedreich's Ataxia; HFE; Iron metabolism; Peripheral neuropathy; Indian population;
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells
Keywords: آتاکسی فریدریش; AAS; atomicabsorption spectrophotometry; 5-ALA; 5-aminoluvulinic acid; APP; amyloid beta precursor protein; BSA; bovine serum albumin; ECLIA; electrochemiluminescence immunoassay; EPAS1; hypoxia-inducible factor 2-alpha; Epo; erythropoietin; FAS; ferrous
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Frataxin; Erythropoietin receptor; EPOR/βc agonist; KIKO;
Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Induced pluripotent stem cells; Cardiomyopathy; Idebenone; Deferiprone;
Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Biomarker; Plasma cell-free nucleic acids; Mitochondrial DNA;
Characterization of frataxin gene network in Friedreich's ataxia fibroblasts using the RNA-Seq technique
Keywords: آتاکسی فریدریش; Frataxin; Friedreich's ataxia; Interferon-induced apoptosis; Hematopoiesis; RNA sequencing;
Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Frataxin; Gene therapy; Bacterial artificial chromosomes; HSV-1 amplicons
GAA triplet-repeats cause nucleosome depletion in the human genome
Keywords: آتاکسی فریدریش; FXN, frataxin; FRDA, Friedreich's ataxia; EM, electron microscopy; AUC, analytical ultracentrifugationTrinucleotide repeats; Friedreich's ataxia; Chromatin structures
The cardiomyopathy in Friedreich's ataxia - New biomarker for staging cardiac involvement
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Cardiomyopathy; Fibrosis;
Ferredoxin, in conjunction with NADPH and ferredoxin-NADP reductase, transfers electrons to the IscS/IscU complex to promote iron-sulfur cluster assembly
Keywords: آتاکسی فریدریش; Electron transfer; Enzymology; Friedreich's ataxia; Iron-sulfur cluster biogenesis; Metabolic machines;
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Keywords: آتاکسی فریدریش; FRDA; Friedreich's ataxia; Haplogroup; Mitochondria;
Application of a Scale for the Assessment and Rating of Ataxia (SARA) in Friedreich's ataxia patients according to posturography is limited
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Autosomal dominant spinocerebellar ataxia; SARA; FARS; Clinical rating scale; Posturography;
Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Dentate nuclei; Dentate iron content; Relaxometry; Volumetry; Ultra-high-field MRI
The Gait Variability Index: A new way to quantify fluctuation magnitude of spatiotemporal parameters during gait
Keywords: آتاکسی فریدریش; CV; coefficient of variation; FAPS; Functional Ambulation Performance Score; FRDA; Friedreich's Ataxia; GDI; Gait Deviation Index; GVI; Gait Variability Index; HP; healthy population; ICARS; International Cooperative Ataxia Rating Scale; ICC; intraclass c
Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia
Keywords: آتاکسی فریدریش; Friedreich's ataxia; GAA·TTC triplet repeats; Genome instability; Mutations; Saccharomyces cerevisiae;
Therapeutic strategies in Friedreich's Ataxia
Keywords: آتاکسی فریدریش; Friedreich's Ataxia; Therapeutic Strategies; Frataxin; 17β-estradiol; Methylene blue
Research ReportA functional MRI study of motor dysfunction in Friedreich's ataxia
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Cerebellum; Finger tapping;
Cellular and Molecular NeuroscienceResearch PaperEffect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration
Keywords: آتاکسی فریدریش; motor neurons; NSC34 cells; glutathionylated proteins; cytoskeleton; oxidative stress; dying-back neurodegeneration; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; FRDA; Friedreich's ataxia; GSH; reduced glutathione; GSSG; glutathione disulf
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
Keywords: آتاکسی فریدریش; Cardiomyopathy; Dentate nucleus; Dorsal root ganglion; Frataxin; Friedreich's ataxia; GAA trinucleotide repeats; Iron; Transcription;
Les ataxies cérébelleuses autosomiques récessives
Keywords: آتاکسی فریدریش; Ataxie cérébelleuse; Autosomique récessif; Neuropathie périphérique; Apraxie oculomotrice; Ataxie de Friedreich; Mouvements anormaux; Cerebellar ataxia; Autosomal recessive; Peripheral neuropathy; Oculomotor apraxia; Friedreich's ataxia; Movement dis
ReviewFriedreich's ataxia: Past, present and future
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Frataxin; GAA; Iron; Fe-S cluster; Oxidative stress;
Ataxia de friedreich: variabilidad fenotÃpica. A propósito de cuatro casos (dos parejas de hermanos)
Keywords: آتاکسی فریدریش; Ataxia de Friedreich; Variabilidad fenotÃpica; Calidad de vida; Friedreich's ataxia; Phenotypic variability; Quality of life;
Research Report1H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2
Keywords: آتاکسی فریدریش; FRDA; Friedreich's ataxia; AOA2; ataxia with oculomotor apraxia type 2; ARCA; autosomal recessive cerebellar ataxia; MRS; magnetic resonance spectroscopy; FARS; Friedreich's Ataxia Rating Scale; NAA; N-acetylaspartate; NAAG; N-acetylaspartylglutamate; tNA
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities
Keywords: آتاکسی فریدریش; Glutathione; Oxidative stress; Friedreich's ataxia; Cytoskeletal proteins
DNA triple helices: Biological consequences and therapeutic potential
Keywords: آتاکسی فریدریش; Triplex DNA; DNA triple helices; Triplex-forming oligonucleotides; H-DNA; Unusual DNA structures; Genetic instability; 2â²-OMe; 2â²-O-methylribose; 2â²-AE; 2â²-O-aminoethylribose; ADPKD; autosomal dominant polycystic kidney disease; BePI; benzo[e]pyri
Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia
Keywords: آتاکسی فریدریش; Friedreich's ataxia; mtDNA; Haplogroup; D-loop
Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase
Keywords: آتاکسی فریدریش; Pos5; NAD kinase; NADH kinase; Friedreich's ataxia; Oxidative stress; Mitochondria; Iron–sulfur cluster assembly
Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration
Keywords: آتاکسی فریدریش; Friedreich's ataxia; Microarray; Mouse model; Frataxin; Neurodegeneration; Knockin/knockout