Results 31 to 40 of about 46,226 (179)
Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction
, 1996 Friedreich's ataxia is the most common inherited spinocerebellar ataxia. A decade of linkage and physical mapping studies have culminated in the identification of the Friedreich's ataxia gene.
Gibson TJ +11 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.
openaire +2 more sources
Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study
, 2022 International audienceBackground: Friedreich's ataxia is an autosomal recessive mitochondrial disease caused by a triplet repeat expansion in the frataxin gene (FXN), exhibiting cerebellar sensory ataxia, diabetes and cardiomyopathy.
Ewenczyk, Claire +19 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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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology [PDF]
, 2006 Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Al-Mahdawi, S, Pook, MA, Mouro Pinto, R
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Determinant of the cerebellar cognitive affective syndrome in Friedreich's ataxia.
, 2023 Individuals with Friedreich's ataxia (FRDA) display significantly lower performances in many cognitive domains with a pattern of impairment that falls within the cerebellar cognitive affective syndrome (CCAS).SCOPUS: ar.jinfo:eu-repo/semantics ...
Destrebecq, Virginie +4 more
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Cardiomyopathy of Friedreich Ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractFriedreich's ataxia is a rare hereditary, predominantly neurologically defined multisystem disorder of mitochondrial function. Although the gene defect has been identified, the precise pathophysiology of the deficient mitochondrial protein, frataxin, is unknown. Besides the characteristic features of spinocerebellar ataxia the heart may also be
Frank, Weidemann +6 more
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Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia [PDF]
, 2014 © The Author 2014. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution,
Pedersen, TL +11 more
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European Journal of Case Reports in Internal Medicine, 2015 A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
doaj +1 more source