Clinical and genetic abnormalities in patients with Friedreich's ataxia
about
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesTreatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originThe GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structureAtaxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesInfluence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processingAtypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansionFriedreich ataxia: an overviewLongitudinal strain bull's eye plot patterns in patients with cardiomyopathy and concentric left ventricular hypertrophyInfiltrative CardiomyopathiesMitochondrial dynamism and heart disease: changing shape and shaping changeIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryCommon defects of mitochondria and iron in neurodegeneration and diabetes (MIND): a paradigm worth exploringTherapeutic developments in Friedreich ataxiaModeling neurological disorders by human induced pluripotent stem cellsCrystal structure of human frataxinFriedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly ComplexStructure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly ComplexRespiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologueStudies of human, mouse and yeast homologues indicate a mitochondrial function for frataxinFrataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesFriedreich's ataxia: point mutations and clinical presentation of compound heterozygotesDevelopment of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxiaGeneration and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsLymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's AtaxiaDisruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA TargetingAuditory processing deficits in children with Friedreich ataxia.Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imagingFriedreich ataxia: dysarthria profile and clinical data.Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1Autosomal recessive cerebellar ataxias.Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screenProgressive GAA.TTC repeat expansion in human cell lines.Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent mannerPure hereditary spastic paraplegia.Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
P2860
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P2860
Clinical and genetic abnormalities in patients with Friedreich's ataxia
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@ast
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@en
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@nl
type
label
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@ast
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@en
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@nl
prefLabel
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@ast
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@en
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@nl
P2093
P50
P3181
P1476
Clinical and genetic abnormalities in patients with Friedreich's ataxia
@en
P2093
P304
P3181
P356
10.1056/NEJM199610173351601
P407
P577
1996-10-17T00:00:00Z