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Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesTreatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesDynamics, stability and iron-binding activity of frataxin clinical mutantsSurvey of human mitochondrial diseases using new genomic/proteomic toolsMitochondrial disease in childhood: nuclear encodedCardiomyopathy in Friedreich ataxia: clinical findings and researchSleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistCrystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin familyUnderstanding the binding properties of an unusual metal-binding protein--a study of bacterial frataxinAtaxia.Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxiaAuditory processing deficits in children with Friedreich ataxia.Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.Perceived effectiveness and barriers to physical therapy services for families and children with Friedreich ataxia.Friedreich ataxia: dysarthria profile and clinical data.Selective determination of mitochondrial chelatable iron in viable cells with a new fluorescent sensor.PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.The structure and function of frataxin.Human frataxin: iron and ferrochelatase binding surface.Past, present and future therapeutics for cerebellar ataxias.Saturation of the human phenomeFriedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxiaEstrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblastsDysphagia and swallowing-related quality of life in Friedreich ataxia.Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.Consensus clinical management guidelines for Friedreich ataxia.A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?Idebenone and reduced cardiac hypertrophy in Friedreich's ataxiaRational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.NMR assignments of a stable processing intermediate of human frataxin.Key players and their role during mitochondrial iron-sulfur cluster biosynthesisStable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.Clinical features of Friedreich ataxia.Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.Predictors of progression in patients with Friedreich ataxiaRationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Friedreich ataxia: an overview
@ast
Friedreich ataxia: an overview
@en
Friedreich ataxia: an overview
@nl
type
label
Friedreich ataxia: an overview
@ast
Friedreich ataxia: an overview
@en
Friedreich ataxia: an overview
@nl
prefLabel
Friedreich ataxia: an overview
@ast
Friedreich ataxia: an overview
@en
Friedreich ataxia: an overview
@nl
P2093
P2860
P356
P1476
Friedreich ataxia: an overview
@en
P2093
M B Delatycki
R Williamson
S M Forrest
P2860
P356
10.1136/JMG.37.1.1
P407
P577
2000-01-01T00:00:00Z