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Brain & Development
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October 19, 2025
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
Yu Kobayashi, Satoru Sakuma, Emiko Morimoto, et al.
Annals of Clinical and Translational Neurology
|
January 18, 2022
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, et al.
Journal of Human Genetics
|
April 29, 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
Nobuhiko Okamoto, Yuki Tsuchiya, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)
Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
May 28, 2015
Two siblings with cortical dysplasia: Clinico-electroencephalographic features
Tatsuya Fukasawa, Tetsuo Kubota, Tamiko Negoro, et al.
Epilepsia
|
June 20, 2012
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, et al.
Biochemical and Biophysical Research Communications
|
April 27, 2024
A novel mechanism of idiopathic orthostatic hypotension and hypocatecholaminemia due to autoimmunity against aromatic l-Amino acid decarboxylase
Eita Uenishi, Yusuke Seino, Akira Nakashima, et al.
Human Genome Variation
|
April 16, 2016
Truncating mutation in NFIA causes brain malformation and urinary tract defects
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Seizure
|
January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)
Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, et al.
Page
of 24
Search research articles
Search
Showing results (101-110 of 238) with videos related to
Sort By:
Page
of 24
Brain & Development
|
October 19, 2025
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series
Yu Kobayashi, Satoru Sakuma, Emiko Morimoto, et al.
Annals of Clinical and Translational Neurology
|
January 18, 2022
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, et al.
Journal of Human Genetics
|
April 29, 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
Nobuhiko Okamoto, Yuki Tsuchiya, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2011
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)
Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
May 28, 2015
Two siblings with cortical dysplasia: Clinico-electroencephalographic features
Tatsuya Fukasawa, Tetsuo Kubota, Tamiko Negoro, et al.
Epilepsia
|
June 20, 2012
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, et al.
Biochemical and Biophysical Research Communications
|
April 27, 2024
A novel mechanism of idiopathic orthostatic hypotension and hypocatecholaminemia due to autoimmunity against aromatic l-Amino acid decarboxylase
Eita Uenishi, Yusuke Seino, Akira Nakashima, et al.
Human Genome Variation
|
April 16, 2016
Truncating mutation in NFIA causes brain malformation and urinary tract defects
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Seizure
|
January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)
Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, et al.
Page
of 24