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Neuroscience Research|September 9, 2018
Inhibition of collapsin response mediator protein-2 phosphorylation ameliorates motor phenotype of ALS model mice expressing SOD1G93AYurika Numata-Uematsu, Shuji Wakatsuki, Seiichi Nagano, et al.
Brain & Development|September 28, 2021
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutationHinako Kirikae, Mitsugu Uematsu, Yurika Numata-Uematsu, et al.
Pediatric Neurology|July 1, 2023
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic TremorSaki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, et al.
Brain & Development|February 4, 2018
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutationHaruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, et al.
Molecular Genetics and Metabolism Reports|September 15, 2021
Leigh syndrome-like MRI changes in a patient with biallelic <i>HPDL</i> variants treated with ketogenic dietYurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, et al.
American Journal of Medical Genetics. Part A|December 31, 2021
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variantYu Katata, Saki Uneoka, Naoya Saijyo, et al.
Brain & Development|February 25, 2016
Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimusYuko Sato, Yurika Numata-Uematsu, Mitsugu Uematsu, 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.
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