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Brain & Development|April 22, 2011
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathyShuei Watanabe, Akitoshi Murayama, Kazuhiro Haginoya, et al.Brain & Development|May 3, 2005
The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic studyMitsutoshi Munakata, Osamu Sakamoto, Taro Kitamura, et al.Brain & Development|July 4, 2021
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variantMoriei Shibuya, Saki Uneoka, Akira Onuma, et al.The Tohoku Journal of Experimental Medicine|March 24, 2022
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2Yuta Narishige, Hisao Yaoita, Moriei Shibuya, et al.Annals of Clinical and Translational Neurology|May 16, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsyYusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, et al.Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.Pageof 3