Diagnosis and treatment of Friedreich ataxia: a European perspective.
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Treatment for dysphagia (swallowing difficulties) in hereditary ataxiaTreatment for dysphagia (swallowing difficulties) in hereditary ataxia syndromesTowards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examplesExpression of human frataxin is regulated by transcription factors SRF and TFAP2Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophyPharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxiaGeneration and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell modelsProlonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse modelFriedreich ataxia: dysarthria profile and clinical data.Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge regionMutLα heterodimers modify the molecular phenotype of Friedreich ataxia.Past, present and future therapeutics for cerebellar ataxias.Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study.Friedreich's ataxia: the vicious circle hypothesis revisited.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Dysphagia and swallowing-related quality of life in Friedreich ataxia.SPG7 mutations are a common cause of undiagnosed ataxiaStem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells.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.Estrogen protection in Friedreich's ataxia skin fibroblasts.Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia.Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.Mesenchymal stem cells improve motor functions and decrease neurodegeneration in ataxic mice.A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin DeficiencyLong intronic GAA repeats causing Friedreich ataxia impede transcription elongation.Induced pluripotent stem cells to model and treat neurogenetic disordersA future perspective on neurodegenerative diseases: nasopharyngeal and gut microbiota.Human pluripotent stem cells: applications and challenges in neurological diseases.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaThe cerebellum as a target for estrogen action.Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and GermanyRating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.Friedreich Ataxia in Classical GalactosaemiaFriedreich ataxia: new pathways.Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.
P2860
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P2860
Diagnosis and treatment of Friedreich ataxia: a European perspective.
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@ast
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@en
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@nl
type
label
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@ast
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@en
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@nl
prefLabel
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@ast
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@en
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@nl
P2093
P2860
P356
P1476
Diagnosis and treatment of Friedreich ataxia: a European perspective.
@en
P2093
Alexandra Dürr
Caterina Mariotti
Francoise Pousset
Katrin Bürk
Massimo Pandolfo
Paola Giunti
Pierre Vankan
Sylvia Boesch
P2860
P2888
P304
P356
10.1038/NRNEUROL.2009.26
P407
P577
2009-04-01T00:00:00Z
P6179
1009745635