Results 171 to 180 of about 4,540 (202)
Emerging antioxidant therapies in Friedreich's ataxia. [PDF]
Front PharmacolEdzeamey FJ +3 more
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Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study. [PDF]
CerebellumTranfa M +7 more
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Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy. [PDF]
Commun BiolSalinas L +6 more
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Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol. [PDF]
PLoS OneGeorgiou-Karistianis N +36 more
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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
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Archives of Otolaryngology - Head and Neck Surgery, 1981
To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
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Pediatric Neurology, 2003
Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
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2002
Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Pediatric Neurology
With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine ...
S.H. Subramony, David R. Lynch
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With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine ...
S.H. Subramony, David R. Lynch
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Journal of Voice, 2017
Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech
Vogel, Adam P. +6 more
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Friedreich Ataxia (FRDA) is the most common hereditary ataxia, with dysarthria as one of its key clinical signs.To describe the voice profile of individuals with FRDA to inform outcome marker development and goals of speech therapy.Thirty-six individuals with FRDA and 30 age-matched controls provided sustained vowel and connected speech samples. Speech
Vogel, Adam P. +6 more
openaire +6 more sources