نتایج جستجو برای: friedreich ataxia

تعداد نتایج: 17893  

Journal: :Cochrane Database of Systematic Reviews 2016

Journal: :Journal of Child Neurology 2012

Journal: :Sri Lanka Journal of Child Health 2009

Journal: :Journal of Child Neurology 2012

Journal: :Journal of Multidisciplinary Healthcare 2021

Journal: :Human molecular genetics 2010
Stéphane Schmucker Hélène Puccio

Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. The physiopathological consequences of frataxin deficiency are a severe disruption of iron-sulfur cluster biosynthesis, mitochondrial iron overload coupled to cellular iron dysregulation and an increased sensitivity to oxidative stress. Frataxin is a highly conserved pro...

Journal: :Vojnosanitetski Pregled 2023

Introduction. Friedreich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects trunk, with swaying, imbalance, and falls, well limbs, increasing difficulty in activities of daily living. Physical therapy has been recognized a means managing physical symptoms maximizing function affected persons. To our knowledge, there are no studies that ha...

Journal: :Orphanet Journal of Rare Diseases 2006
Francesc Palau Carmen Espinós

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...

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