A Yokoseki, T Ishihara, A Koyama, A Shiga… - Brain, 2011 - Oxford Univ Press Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia–oculomotor apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. We previously reported that patients with frameshift mutations exhibit a more severe phenotype than ... Related articles - All 4 versions
B Castellotti, C Mariotti, M Rimoldi, R Fancellu… - neurogenetics, 2011 - Springer ... AT), AT-like disorder (ATLD), ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2 (AOA2). ... Patients with APTX gene mutations underwent neurological examination, brain MRI, motor and sensory nerve conduction studies, and biochemical ... Cited by 2 - Related articles - All 2 versions
P Sykora, DL Croteau, VA Bohr… - Proceedings of the …, 2011 - National Acad Sciences ... and transferases, and it removes 5′-AMP groups that arise from aborted DNA ligation reactions (3–6). The clinical symptoms of AOA1 include global cerebellar atrophy characterized by loss of Purkinje cells, ocular motorapraxia, and motor and sensory neuropathy (7–13). ... Cited by 1 - Related articles - All 3 versions
[PDF] from biomedcentral.comS Bohlega, J Shinwari, L Al Sharif… - BMC Medical …, 2011 - biomedcentral.com ... [3]. Patients with AOA2 present with gait ataxia, cerebellar atrophy, sensory- motor neuropathy, ocular-motorapraxia and elevated immunoglobulins and alpha-fetoprotein levels with an age of onset (10-22years)[4]. In addition patients with Ataxia-Telangiectasia-Like ... Related articles - All 6 versions
[HTML] from cjb.netA Dovern, GR Fink, J Saliger, H Karbe… - The Journal of …, 2011 - neuro.cjb.net Apraxia caused by left hemispheric stroke typically impairs skilled sequential movements. After stroke, apraxic patients need to reacquire motor skills by motor learning. The current study assessed for the first time incidental motor sequence learning in apraxic patients. Forty-eight human ... Related articles - All 5 versions
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