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Human Molecular Genetics|November 16, 2013
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific mannerBisei Ohkawara, Macarena Cabrera-Serrano, Tomohiko Nakata, et al.Human Molecular Genetics|December 29, 2022
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cellsShaochuan Zhang, Bisei Ohkawara, Mikako Ito, et al.Brain & Development|December 4, 2020
The eldest case of MICPCH with CASK mutation exhibiting gross motor regressionYosuke Nishio, Hiroyuki Kidokoro, Toshiki Takeo, et al.Journal of the Neurological Sciences|January 20, 2012
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodesHarumi Yoshinaga, Shunichi Sakoda, Jean-Marc Good, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|September 25, 2021
Involvement of brain structures in childhood epilepsy with centrotemporal spikesYuji Ito, Yuki Maki, Yu Okai, et al.Brain & Development|December 8, 2021
Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findingsAtsuko Ohno, Akihisa Okumura, Tatsuya Fukasawa, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 1, 2020
Transient cortical diffusion restriction in children immediately after prolonged febrile seizuresTakeshi Suzuki, Hiroyuki Kidokoro, Tetsuo Kubota, et al.Brain & Development|August 2, 2021
Trajectory of the incidence of brushes on preterm electroencephalogram and its association with neurodevelopment in extremely low birth weight infantsTakashi Maeda, Hiroyuki Kidokoro, Takashi Tachibana, et al.Neuromuscular Disorders : NMD|June 3, 2015
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular spaceSatoshi Iwata, Mikako Ito, Tomohiko Nakata, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 9, 2022
Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysisTakeshi Suzuki, Yuji Ito, Tadashi Ito, et al.Pageof 5