Keywords: Friedreich's ataxia; Autonomic nervous system; Heart rate variability; Sudomotor function; QSART; FRDA; Friedreichs's ataxia; FARS; Friedreich's Ataxia Rating Scale; SCOPA-AUT; Scales for Outcomes in Parkinson's Disease - Autonomic Questionnaire
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Keywords: Inherited autosomal cerebellar ataxia; Dentate nuclei; Atrophy; Magnetic resonance imaging (MRI); Susceptibility-weighted imaging (SWI); AOA1; Ataxia with Oculomotor Apraxia Type 1; AOA2; Ataxia with Oculomotor Apraxia Type 2; AT; Ataxia-Telangiectasia; A
Keywords: 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
Keywords: MMR; mismatch repair; MSH; mutS homolog; MLH; mutL homolog; BER; base excision repair; NER; nucleotide excision repair; TNR; trinucleotide repeat; DM1; myotonic dystrophy type 1; HD; huntington's disease; FRDA; Friedreich's ataxia; FXD; fragile X dise
Keywords: 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
The virulence and immune protection of Edwardsiella ictaluri HemR mutants in catfish
Keywords: HemR; TCA cycle; FrdA; SdhC; Virulence;
Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia
Keywords: 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
Serum uric acid in Friedreich Ataxia
Keywords: Friedreich ataxia; FRDA; Biomarker; Uric acid;
Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity
Keywords: 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
ReviewSenataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration
Keywords: 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;
Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders
Keywords: Blood direct PCR; Triplet repeat disorder; Spinocerebellar ataxia; FRDA;
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells
Keywords: 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
Mapping of mitochondrial ferritin in the brainstem of Macaca fascicularis
Keywords: AD; Alzheimer's disease; COX4; cytochrome c oxidase subunit IV; EDTA; ethylenediaminetetraacetic acid; FRDA; Friedreich's ataxia; FTH; H-chain ferritin; FtMt; mitochondrial ferritin; G; granule layer; HEPES; 4-(2-hydroxyethyl)-1-piperazineethanesulfon
Novel aberrant genetic and epigenetic events in Friedreich׳s ataxia
Keywords: FRDA; Friedreich׳s ataxia; FXN; frataxin; ISC; iron-sulphur cluster; hPDL; human periodontal ligament; CASP3; active caspase-3; DNMT; DNA methyltransferase; CpG; cytosine phosphate group guanine; TSS; transcription start site; UP; upstream GAA repetiti
Mitoferrin modulates iron toxicity in a Drosophila model of Friedreich׳s ataxia
Keywords: FRDA; Friedreich׳s ataxia; ISC; iron-sulfur cluster; IRP; iron regulatory protein; Fer1HCH; ferritin 1 heavy chain homologue; Fer2LCH; ferritin 2 light chain homologue; Fer3HCH; mitochondrial ferritin homologue; dmfrn; drosophila mitoferrin; RNAi; RNA
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Keywords: FRDA; Friedreich's ataxia; Haplogroup; Mitochondria;
Cross-sectional analysis of glucose metabolism in Friedreich Ataxia
Keywords: 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;
The Gait Variability Index: A new way to quantify fluctuation magnitude of spatiotemporal parameters during gait
Keywords: 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
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Keywords: 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
Cellular and Molecular NeuroscienceResearch PaperEffect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration
Keywords: 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
Research Report1H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2
Keywords: 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
Diversity of fumarate reducing bacteria in the bovine rumen revealed by culture dependent and independent approaches
Keywords: Fumarate reducing bacteria; Fumarate reductase; frdA; Rumen; Molecular ecology
DNA triple helices: Biological consequences and therapeutic potential
Keywords: 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
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
Keywords: 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
Increased IRP1 activity in Friedreich ataxia
Keywords: IRP; iron-regulatory protein; IRE; iron-responsive element; ISC; iron-sulfur cluster; FRDA; Friedreich ataxia; Yfh1; Yeast frataxin homologue; UTR; untranslated region; REMSA; RNA Electrophoretic Mobility Shift Assay; Iron-sulfur cluster; Mitochondria
Sulfiredoxin: a potential therapeutic agent?
Keywords: Glutathione; Glutathionylation; Sulfiredoxin; Reactive oxygen/nitrogen species; Oxidative stress; GST; ALS; amylotrophic lateral sclerosis; ER; endoplasmic reticulum; FRDA; Friedrich's ataxia; Grx; glutaredoxin; GSH; glutathione; GSSG; glutathione disul