نتایج جستجو برای: friedreich
تعداد نتایج: 2912 فیلتر نتایج به سال:
in patients with subdural hematomas (4 of 48 patients; 8.3%) and consisted of significant increase in subdural hemorrhage with clinical deterioration; no rehemorrhages occurred in other types of intracranial hemorrhage (0 of 61 patients; 0%) (p 1⁄4 0.04). No rehemorrhages occurred in the 32 patients who had neurosurgical intervention for their initial hemorrhage, compared to 4 recurrent hemorrh...
Friedreich ataxia (FA) is an autosomal recessive disease with a complex neurological phenotype, but the most common cause of death is heart failure. This study presents a systematic analysis of 15 fixed and 13 frozen archival autopsy tissues of FA hearts and 10 normal controls (8 frozen) by measurement of cardiomyocyte hypertrophy; tissue frataxin assay; X-ray fluorescence (XRF) of iron (Fe) an...
Friedreich ataxia, myotonic dystrophy type 1, and 3 forms of intellectual disability, Fragile X syndrome, FRAXE mental retardation and FRA12A mental retardation are Repeat Expansion Diseases caused by expansion of CTG•CAG, GAA•TTC, or CGG•CCGrepeat tracts. These repeats are transcribed, but not translated. They are located in different parts of different genes and cause symptoms that range from...
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with r...
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