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friedreich ataxia/fadiga

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Health related quality of life measures in Friedreich Ataxia.

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Evaluation of therapeutic agents for Friedreich Ataxia (FA) has been limited by a lack of adequate markers of disease progression. We assessed the capacity of health related quality of life (HRQOL) questionnaires to reflect disease status in FA. The SF-36 and several symptom-specific scales were

[The use of noben for correction of mitochondrial disorders in Friedrich's disease].

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The results of treatment with noben (idebenon), an improved structural analogue of coenzyme Q10, of 34 patients with Friedrich's disease are presented. In all cases, the clinical diagnosis was confirmed by the presence of a typical mutation, an expansion of trinucleotide GAA-repeats, in the FRDA

Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.

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Friedreich's ataxia is the most common inherited ataxia, and pathogenesis is known to involve mitochondrial oxidative stress. Idebenone is a potent antioxidant which has already been evaluated in several clinical trials in FRDA, with reports of symptomatic benefit but inconclusive
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