Results 21 to 30 of about 5,562 (221)
Redox Biology, 2013 Friedreich ataxia is an autosomal recessive, inherited neuro- and cardio-degenerative disorder characterized by progressive ataxia of all four limbs, dysarthria, areflexia, sensory loss, skeletal deformities, and hypertrophic cardiomyopathy. Most disease
M. Grazia Cotticelli +3 more
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Dysphagia in Friedreich Ataxia [PDF]
Dysphagia, 2017 The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with FRDA.
Megan J. Keage +4 more
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Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]
, 2014 This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
Anjomani-Virmouni, S +20 more
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Friedreich ataxia: an overview [PDF]
Journal of Medical Genetics, 2000 Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in
M B, Delatycki +2 more
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Friedreich ataxia- pathogenesis and implications for therapies
Neurobiology of Disease, 2019 Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely localized to mitochondria.
Martin B. Delatycki +1 more
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HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
PLoS ONE, 2008 BackgroundFriedreich ataxia, an autosomal recessive neurodegenerative and cardiac disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein.
Myriam Rai +8 more
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Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model [PDF]
, 2012 Copyright © The Author 2012. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits ...
B. Tomassini +26 more
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Journal of Neurology, Neurosurgery & Psychiatry, 2004 Friedreich’s ataxia, a spinocerebellar degeneration, is an autosomal recessive disease of the cerebellum, spinal cord, and peripheral nerves. Symptoms generally begin before puberty and include an ataxic gait, dysarthria, loss of reflexes, and variably nystagmus, kyphoscoliosis, and pes cavus.
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