Diagnosis and treatment of Friedreich ataxia: a European perspective. - Wikidata - awgldk - TriplyDB

Diagnosis and treatment of Friedreich ataxia: a European perspective.

Diagnosis and treatment of Friedreich ataxia: a European perspective.

http://www.wikidata.org/entity/Q34974299

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Treatment for dysphagia (swallowing difficulties) in hereditary ataxia Treatment for dysphagia (swallowing difficulties) in hereditary ataxia syndromes Towards 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 examples Expression of human frataxin is regulated by transcription factors SRF and TFAP2 Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model Friedreich ataxia: dysarthria profile and clinical data.Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region MutLα 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 ataxia Stem 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 Deficiency Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.Induced pluripotent stem cells to model and treat neurogenetic disorders A 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 paraplegia The 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 Germany Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database.Friedreich Ataxia in Classical Galactosaemia Friedreich 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.

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Diagnosis and treatment of Friedreich ataxia: a European perspective.

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Diagnosis and treatment of Friedreich ataxia: a European perspective.

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Diagnosis and treatment of Friedreich ataxia: a European perspective.

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Nature Reviews Neurology

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Diagnosis and treatment of Friedreich ataxia: a European perspective.

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Alexandra Dürr

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Caterina Mariotti

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Francoise Pousset

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P2860

Tracing European founder lineages in the Near Eastern mtDNA pool

Meta-analysis: high-dosage vitamin E supplementation may increase all-cause mortality

Presentation and progression of Friedreich ataxia and implications for physical therapist examination.

Friedreich's ataxia and scoliosis: the experience at two institutions.

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.

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