Keywords: فریدریش آتاکسیا; Friedreich ataxia; Cardiomyopathy; FRATAXIN; Stem cells;
مقالات ISI فریدریش آتاکسیا (ترجمه نشده)
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Keywords: فریدریش آتاکسیا; Friedreich ataxia; Health status; Rating scales; Friedreich Ataxia Impact Scale;
Keywords: فریدریش آتاکسیا; MRI; Friedreich ataxia; Diffusion tensor imaging; Tract-based spatial statistics; Gait disorders
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Induced pluripotent stem cells; Retinal pigment epithelium; Human eye; Mouse models; Oxidative phosphorylation;
Keywords: فریدریش آتاکسیا; Mitochondrial disease; Oxidative stress; Friedreich ataxia; Leber hereditary optic neuropathy; Leigh syndrome; MELAS; MERRF; Inflammation; Neurodegeneration; Neuroinflammation; Free radicals;
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Mitochondria; Frataxine; Physiopathology; Therapeutic; Ataxie de Friedreich; Mitochondries; Frataxine; Physiopathologie; Approches thérapeutiques;
Keywords: فریدریش آتاکسیا; ISC; iron-sulfur clusters; FRDA; Friedreich ataxia; NFS1/Nfs1; human/yeast cysteine desulfurase; ISD11/Isd11; human/yeast NFS1-/Nfs1-binding protein; ISCU/Isu1; human/yeast scaffold protein; MPP; mitochondrial processing peptidase; Friedreich ataxia; Fr
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Acoustic analysis; Spectral-cepstral analysis; Vowels; ADSV
Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Diabetes mellitus; Ketoacidosis; Insulin; Oral antidiabetics; Weight;
Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia
Keywords: فریدریش آتاکسیا; ABR; auditory brainstem-evoked response; ANSD; auditory neuropathy spectrum disorder; ATP; adenosine triphosphate; OAE; otoacoustic emissions; FRDA; Friedreich's ataxia; ICARS; International Cooperative Ataxia Rating Scale; PTA; pure-tone average; Fried
Depressive symptoms in Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Cerebellum; Depression; Cognitive slowing; Descriptive observational study; Ataxia de Friedreich; cerebelo; depresión; enlentecimiento cognitivo; estudio descriptivo observacional;
Genetic Infiltrative Cardiomyopathies
Keywords: فریدریش آتاکسیا; Amyloidosis; Hemochromatosis; Cardiac oxalosis; Friedreich ataxia; Mucopolysaccharidosis; Fabry disease; Danon disease; PRKAG2 syndrome;
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Keywords: فریدریش آتاکسیا; AD; autosomal dominant; AOA1; ataxia with oculomotor apraxia type 1; AR; autosomal recessive; ARCA; autosomal recessive cerebellar ataxia; ATM; ataxia talengiectasia; FA; Friedreich ataxia; GBA2; b-glucosidase 2; HSPs; hereditary spastic paraplegias; NGS;
Nitric oxide prevents Aft1 activation and metabolic remodeling in frataxin-deficient yeast
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Nitric oxide; Iron-sulfur; Metabolism; Targeted proteomics;
Progress in the treatment of Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Therapy; Rehabilitation; Gene therapy;
Pitfalls in molecular diagnosis of Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; FXN gene; Aluseq; Deletion; TP-PCR; Diagnosis;
Serum uric acid in Friedreich Ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; FRDA; Biomarker; Uric acid;
Cerebral abnormalities in Friedreich ataxia: A review
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Neurodegenerative disorder; Spino-cerebellar ataxia; Cerebrum; Neuroimaging; Magnetic resonance imaging (MRI); Functional magnetic resonance imaging (fMRI); Diffusion tensor imaging (DTI); Cerebro-cerebellar connectivity;
ReviewSenataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration
Keywords: فریدریش آتاکسیا; AD; Alzheimer's disease; SOD1; superoxide dismutase 1; ALS; amyotrophic lateral sclerosis; ALS-FTD; ALS with frontotemporal lobar degeneration; FRDA; Friedreich ataxia; FXS; fragile X syndrome; SETX; senataxin; AOA2; ataxia with oculomotor apraxia type 2;
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Cardiomyopathy; Intercalated discs; Gap junctions; N-cadherin; Connexin 43;
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; FXN; Frataxin; Repeat expansion; GAA/TTC-triplet repeat; Chromosome fragility
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Frataxin; Ubiquitin; Orphan drug development;
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Point mutation; Disease progression; Hemochromatosis; Genetic counseling;
Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Axonopathy; Magnetization transfer ratio; Myelin; Frataxin; Oligodendrocytes;
Cross-sectional analysis of glucose metabolism in Friedreich Ataxia
Keywords: فریدریش آتاکسیا; FRDA; Friedreich ataxia; HOMA; Homeostatic Model Assessment; BMI; Body mass index; GAA; Guanine-adenine-adenine; FARS; Friedreich ataxia rating scale; CHOP; Children's Hospital of Philadelphia; Metabolism; Diabetes; Mitochondria; Triplet repeat;
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Evaluation of upper limb function; Three-dimensional kinematic protocol; Reliability; Measurement errors; Discriminative ability;
Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Yeast frataxin; Iron; Oxidative stress;
Clinical Neurogenetics
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Triplet repeat expansion; Autosomal recessive; Mitochondria; Neurodegenerative disease;
Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells
Keywords: فریدریش آتاکسیا; DC-FDA, 2′,7′-dichlorodihydrofluorescein diacetate; FA, Friedreich ataxia; FCH, ferrichrome; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; ROS, reactive oxygen speciesFrataxin; Friedreich ataxia; Mitochondrial dynamics; Oxidative stress
Rapamycin reduces oxidative stress in frataxin-deficient yeast cells
Keywords: فریدریش آتاکسیا; Mitochondria; Friedreich ataxia; Rapamycin; Oxidative stress; Mitophagy;
Uses of the postural stability test for differential diagnosis of hereditary ataxias
Keywords: فریدریش آتاکسیا; Ataxia; Sensory ataxia; Cerebellar ataxia; Coordination impairment; Spinocerebellar ataxia type 2; Friedreich ataxia; Differential diagnosis; Centre of pressure;
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
Keywords: فریدریش آتاکسیا; Friedreich ataxia; FRDA, frataxin; GAA trinucleotide repeat; Transgenic mouse model; Mismatch repair; MMR; Msh2; Msh3; Msh6; Pms2
Decreased functional brain activation in Friedreich ataxia using the Simon effect task
Keywords: فریدریش آتاکسیا; Friedreich ataxia; fMRI; Simon effect; Cerebellum; Attention
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Keywords: فریدریش آتاکسیا; ARE; antioxidant response element; BSO; l-buthionine-(S,R)-sulfoximine; FRDA; Friedreich ataxia; HMPAO; technetium-99m-hexamethylpropyleneamine oxime; KSS; Kearns-Sayre syndrome; LHON; Leber hereditary optic neuropathy; LS; Leigh syndrome; MELAS; Mitoch
Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Simon interference task; Reaction time; Cerebellum; Inhibition
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Cardiac function and structure; Genes; Renin–Angiotensin–Aldosterone system; microRNA
The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Fitts law; index of difficulty; kinematics; movement; BDI; Beck Depression Inventory; DLPFC; dorsolateral prefrontal cortex; DT; dwell time; FARS; Friedreich ataxia rating scale; ID; index of difficulty; MT; movement time; NART; Nationa
Uncommon features in Cuban families affected with Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Recessive ataxia; Molecular diagnosis; Case report
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications
Keywords: فریدریش آتاکسیا; autosomal recessive genetic disease; family planning; Friedreich ataxia; neurodegenerative disease; pregnancy with disability;
Exercise Capacity and Idebenone Intervention in Children and Adolescents With Friedreich Ataxia
Keywords: فریدریش آتاکسیا; Exercise; Friedreich Ataxia; Idebenone [substance name]; RehabilitationATP, adenosine triphosphate; DNA, deoxyribonucleic acid; FA, Friedreich ataxia; FARS, Friedreich Ataxia Rating Scale; GAA, guanine-adenine-adenine; ICARS, International Cooperative Ata
Epigenetic changes and non-coding expanded repeats
Keywords: فریدریش آتاکسیا; Myotonic dystrophy; RNA dominance; Epigenetics; Friedreich ataxia; Fragile X syndrome; MBNL; Trinucleotide repeat
Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage
Keywords: فریدریش آتاکسیا; Iron overload; Protein carbonylation; Metal-catalyzed oxidation; Frataxin; Yeast; Superoxide dismutase; Iron toxicity; Friedreich ataxia; Free radicals
Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade
Keywords: فریدریش آتاکسیا; Controlled clinical trials; Mitochondrial disorders; Dichloroacetate; Arginine; Coenzyme Q10; Idebenone; Parkinson disease; Friedreich ataxia; Exercise;
Ataksja Friedreicha - algorytm diagnostyki klinicznej i molekularnej
Keywords: فریدریش آتاکسیا; ataksja Friedreicha; gen FXN; mutacja dynamiczna; diagnostyka molekularna; LR-PCR; TP-PCR; Friedreich ataxia; FXN gene; dynamic mutation; molecular analysis; LR-PCR; TP-PCR;
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
Keywords: فریدریش آتاکسیا; Idebenone treatment; Friedreich ataxia; Paediatric patients; Cerebellar ataxia; Hypertrophic cardiomyopathy; ICARS
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry
Keywords: فریدریش آتاکسیا; DWI; Tract-based spatial statistics; Gait disorders/ataxia; Friedreich ataxia
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
Keywords: فریدریش آتاکسیا; Friedreich ataxia; GAA triplet repeat; Instability; Progressive; Embryonic development; Somatic instability
Oxidative stress and protease dysfunction in the yeast model of Friedreich ataxia
Keywords: فریدریش آتاکسیا; Friedreich ataxia; Yeast; Iron; Oxidative stress; Frataxin; Proteases; Free radicals
Small molecules affecting transcription in Friedreich ataxia
Keywords: فریدریش آتاکسیا; Frataxin; Friedreich ataxia; Transcription; Polyamides; Histone deacetylase inhibitorFRDA, Friedreich ataxia; FXN, frataxin gene; HDAC, histone deacetylase
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
Keywords: فریدریش آتاکسیا; neurodegeneration; mitochondria; oxidative damage; Huntington's disease; Friedreich ataxia; xeroderma pigmentosum; BDNF; brain-derived neurotrophic factor; CREB; cyclic AMP response element-binding protein; cybrid; cytoplasmic hybrid; FRDA; Friedreich a