نتایج جستجو برای: ataxia oculomotor apraxia 1 aoa1
تعداد نتایج: 2770963 فیلتر نتایج به سال:
Ataxia with Oculomotor Apraxia type 2 (AOA2) is one of the most frequent types of autosomal degenerative cerebellar ataxia. The first objective of this work was to identify specific cerebellar atrophy using MRI in patients with AOA2. Since increased iron deposits have been reported in degenerative diseases, our second objective was to report iron deposits signals in the dentate nuclei in AOA2. ...
Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role in the response to oxidative stress. To investigate further the function of se...
Ataxia telangiectasia (A-T) is a progressive neurodegenerative disease with onset in early childhood, caused by mutations in the ATM (ataxia-telangiectasia mutated) gene. Diagnosis relies on laboratory tests showing high levels of serum alphafetoprotein, cell sensitivity to ionizing radiation (IR) and absence or reduced levels of ATM protein. Many tests, however, are not sufficiently sensitive ...
Sir, We are grateful for the opportunity to respond to the correspondence from Oegema et al. (2013) and we thank the authors for their interest in our recent review article discussing the three known neurological disorders associated with defective single strand break repair, namely ataxia oculomotor apraxia 1 (AOA1), spinocerebellar ataxia with neuronal neuropathy 1 (SCAN1) and microcephaly, e...
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
Two experiments studied how the age at which words are acquired (Age of Acquisition, AoA) modulates forgetting. Experiment 1 employed the retrieval-practice paradigm to test the effect of AoA on the incidental forgetting that emerges after solving competition during retrieval (i.e., retrieval-induced forgetting, RIF). Standard RIF appeared with late-acquired words, but this effect disappeared w...
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