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Mitsuhiro Kato

Showing results (151-160 of 238) with videos related to

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Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Molecular Brain|July 20, 2016
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutationsYohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, et al.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Journal of Human Genetics|April 4, 2009
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndromeHideo Kuniba, Koh-ichiro Yoshiura, Tatsuro Kondoh, et al.
Neuromuscular Disorders : NMD|June 3, 2011
Inflammatory changes in infantile-onset LMNA-associated myopathyHirofumi Komaki, Yukiko K Hayashi, Rie Tsuburaya, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Scientific Reports|July 3, 2026
A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signalingMasashi Nishikawa, Yuri Uchiyama, Kazuyuki Nakamura, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Pageof 24

Showing results (151-160 of 238) with videos related to

Sort By:
Pageof 24
Nature Genetics|May 13, 2008
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi, et al.
Molecular Brain|July 20, 2016
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutationsYohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, et al.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Journal of Human Genetics|April 4, 2009
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndromeHideo Kuniba, Koh-ichiro Yoshiura, Tatsuro Kondoh, et al.
Neuromuscular Disorders : NMD|June 3, 2011
Inflammatory changes in infantile-onset LMNA-associated myopathyHirofumi Komaki, Yukiko K Hayashi, Rie Tsuburaya, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Scientific Reports|July 3, 2026
A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signalingMasashi Nishikawa, Yuri Uchiyama, Kazuyuki Nakamura, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Pageof 24