نتایج جستجو برای: friedreich ataxia

تعداد نتایج: 17893  

2014
Fatima Imounan Naima Bouslam Wafa Regragui Ahmed Bouhouche Ali Benomar Mohammed Yahyaoui

Introduction: Friedreich ataxia (FRDA) is a multi-system autosomal-recessive disease, the most common one of the genetically inherited ataxias. FRDA occurs as a consequence of mutations in the frataxin gene, with an expansion of a GAA trinucleotide. Ataxia with vitamin E deficiency (AVED) is characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich...

Journal: :Journal of the American College of Cardiology 2014

Journal: :Journal of Neuropathology & Experimental Neurology 2017

Journal: :Blood 2008
Yang-Sung Sohn William Breuer Arnold Munnich Z Ioav Cabantchik

Various pathologies are characterized by the accumulation of toxic iron in cell compartments. In anemia of chronic disease, iron is withheld by macrophages, leaving extracellular fluids iron-depleted. In Friedreich ataxia, iron levels rise in the mitochondria of excitable cells but decrease in the cytosol. We explored the possibility of using deferiprone, a membrane-permeant iron chelator in cl...

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