Results 11 to 20 of about 46,226 (179)
Idebenone in Friedreich's ataxia
Expert Opinion on Pharmacotherapy, 2008 Friedreich's ataxia is an autosomal recessive neurodegenerative disease where impaired mitochondrial function and excessive production of free radicals play a central pathogenetic role. Idebenone, a synthetic analogue of coenzyme Q, is a powerful antioxidant that was first administrated to Friedreich's ataxia patients less than 10 years ago.The aim of ...
TONON, CATERINA, LODI, RAFFAELE
openaire +3 more sources
Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
Annals of Noninvasive Electrocardiology, 2021 Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno +7 more
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PLoS ONE, 2013 Many neurodegenerative disorders share a common susceptibility to oxidative stress, including Alzheimer's, Parkinson Disease, Huntington Disease and Friedreich's ataxia.
Jonathan Jones +4 more
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Friedreich's ataxia: the vicious circle hypothesis revisited [PDF]
BMC Medicine, 2011 Friedreich's ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which ...
Camadro Jean-Michel +3 more
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Friedreich's Ataxia – A Clinical Diagnosis [PDF]
Journal of Krishna Institute of Medical Sciences University, 2015 Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam +3 more
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Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]
, 2013 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
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Neuroinflammation in Friedreich’s Ataxia
International Journal of Molecular Sciences, 2022 Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system damage.
Apolloni, Savina +2 more
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Predictors of loss of ambulation in Friedreich's ataxia
EClinicalMedicine, 2020 Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey +2 more
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FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review
Journal of Education, Health and Sport, 2023 Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania +5 more
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Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]
PLoS ONE, 2016 Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco +8 more
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