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Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10Cardiomyopathy in Friedreich ataxia: clinical findings and researchIron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster deliveryTherapeutic developments in Friedreich ataxiaGeneration and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Auditory 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.Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcriptionTransposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation.Genome-wide expression patterns in physiological cardiac hypertrophy.Auranofin protects against anthrax lethal toxin-induced activation of the Nlrp1b inflammasomeFunctional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.Iron homeostasis in peripheral nervous system, still a black box?The neurodegenerative mitochondriopathies.Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies.Epigenetic therapy for Friedreich ataxiaMolecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse modelInduced pluripotent stem cells to model and treat neurogenetic disordersMicrosatellites as targets of natural selectionPathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration.A gene expression phenotype in lymphocytes from Friedreich ataxia patients.Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participantsCardiac involvement in hereditary ataxiasChildhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.Progression of Friedreich ataxia: quantitative characterization over 5 yearsMolecular and clinical investigation of Iranian patients with Friedreich ataxia.Otoneurological Abnormalities in Patients with Friedreich's Ataxia.Vitamin E is essential for Purkinje neuron integrity.White matter changes in patients with friedreich ataxia after treatment with erythropoietin.Bioenergetic medicine.Epigenetic changes and non-coding expanded repeats.Current and emerging treatment options in the management of Friedreich ataxia.Developments in RNA splicing and disease.Iron-dependent functions of mitochondria--relation to neurodegeneration.Neurodegeneration as a consequence of failed mitochondrial maintenance.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Friedreich ataxia.
@ast
Friedreich ataxia.
@en
Friedreich ataxia.
@nl
type
label
Friedreich ataxia.
@ast
Friedreich ataxia.
@en
Friedreich ataxia.
@nl
prefLabel
Friedreich ataxia.
@ast
Friedreich ataxia.
@en
Friedreich ataxia.
@nl
P1433
P1476
Friedreich ataxia.
@en
P2093
Massimo Pandolfo
P304
P356
10.1001/ARCHNEUR.65.10.1296
P577
2008-10-01T00:00:00Z