نتایج جستجو برای: ataxia oculomotor apraxia 1 aoa1
تعداد نتایج: 2770963 فیلتر نتایج به سال:
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newbo...
Transcription hinders replication fork progression and stability. The ATR checkpoint and specialized DNA helicases assist DNA synthesis across transcription units to protect genome integrity. Combining genomic and genetic approaches together with the analysis of replication intermediates, we searched for factors coordinating replication with transcription. We show that the Sen1/Senataxin DNA/RN...
MD, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo SP, Brazil; MD, PhD, Department of Neurology and Neurosurgery, UNIFESP. Alpha-fetoprotein (AFP) is a fetal protein produced in the yolk sac and in the fetal liver. AFP has been implicated in both ontogenic and oncogenic growth disorders. Although the main biologic role of AFP during pregnancy re...
We herein report the case of an 81-year-old woman with midbrain infarction causing pupil-sparing oculomotor nerve palsy with ipsilateral cerebellar ataxia. The lesion was located at the rostral end of the decussation of the superior cerebellar peduncle touching the dorsal side, further caudal and dorsal to causal lesions of Claude's syndrome, which presented as oculomotor palsy and contralatera...
Although ataxia-ocular motor apraxia (AOA) has been described as a disease entity mimicking ataxia telangiectasia (AT), no radiobiological studies have been carried out on cells from patients with AOA to find their possible relationship to AT. In the present study, cultured fibroblasts from three patients with AOA and their asymptomatic relatives (parents and sibs) were, therefore, compared wit...
The MR imaging findings in two patients with the clinical diagnosis of oculomotor apraxia are presented. Both cases showed dysgenesis of the cerebellar vermis, and the colliculi were fused in one patient. No supratentorial abnormalities were seen in either patient.
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید