Results 31 to 40 of about 4,540 (202)
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]
, 2014 Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL +17 more
core +1 more source
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 +9 more
core +1 more source
Respiratory Function in Friedreich’s Ataxia
Children, 2022 Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy.
Elena Vinante +4 more
doaj +1 more source
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
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Annals of Clinical and Translational Neurology, 2022 The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey +5 more
doaj +1 more source
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia
Case Reports in Neurological Medicine, 2016 Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
Michael Bonello, Partha Ray
doaj +1 more source
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
Arquivos Brasileiros de Cardiologia, 2002 OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide ...
Lilian Maria José Albano +6 more
doaj +1 more source