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Epilepsia
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February 27, 2016
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy
Satoshi Yamashita, Tomohiro Chiyonobu, Michiko Yoshida, et al.
Brain Communications
|
August 23, 2021
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency
Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima, et al.
Journal of Human Genetics
|
August 9, 2024
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, et al.
Brain & Development
|
October 17, 2016
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, et al.
Epilepsia Open
|
June 18, 2025
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications
Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, et al.
Journal of Neuroimmunology
|
January 17, 2021
Interleukin-1β in peripheral monocytes is associated with seizure frequency in pediatric drug-resistant epilepsy
Gaku Yamanaka, Tomoko Takamatsu, Shinichiro Morichi, et al.
Epilepsia Open
|
December 8, 2018
<i>PLPBP</i> mutations cause variable phenotypes of developmental and epileptic encephalopathy
Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, et al.
Brain : a Journal of Neurology
|
September 27, 2018
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects
Nanako Hamada, Shunsuke Ogaya, Mitsuko Nakashima, et al.
Brain : a Journal of Neurology
|
January 29, 2019
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
Karin Kojima, Takeshi Nakajima, Naoyuki Taga, et al.
Journal of Human Genetics
|
January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Page
of 24
Search research articles
Search
Showing results (131-140 of 238) with videos related to
Sort By:
Page
of 24
Epilepsia
|
February 27, 2016
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy
Satoshi Yamashita, Tomohiro Chiyonobu, Michiko Yoshida, et al.
Brain Communications
|
August 23, 2021
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency
Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima, et al.
Journal of Human Genetics
|
August 9, 2024
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, et al.
Brain & Development
|
October 17, 2016
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, et al.
Epilepsia Open
|
June 18, 2025
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications
Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, et al.
Journal of Neuroimmunology
|
January 17, 2021
Interleukin-1β in peripheral monocytes is associated with seizure frequency in pediatric drug-resistant epilepsy
Gaku Yamanaka, Tomoko Takamatsu, Shinichiro Morichi, et al.
Epilepsia Open
|
December 8, 2018
<i>PLPBP</i> mutations cause variable phenotypes of developmental and epileptic encephalopathy
Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, et al.
Brain : a Journal of Neurology
|
September 27, 2018
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects
Nanako Hamada, Shunsuke Ogaya, Mitsuko Nakashima, et al.
Brain : a Journal of Neurology
|
January 29, 2019
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
Karin Kojima, Takeshi Nakajima, Naoyuki Taga, et al.
Journal of Human Genetics
|
January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Page
of 24