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Hiroko Shimbo

Showing results (11-20 of 37) with videos related to

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Brain & Development|April 9, 2016
SSADH deficiency possibly associated with enzyme activity-reducing SNPsTomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, et al.
JIMD Reports|July 13, 2013
A Japanese adult case of guanidinoacetate methyltransferase deficiencyTomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, et al.
Human Genome Variation|September 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomaticKarin Kojima, Takahito Wada, Hiroko Shimbo, et al.
Scientific Reports|July 23, 2025
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblastsShingo Ito, Tatsuki Uemura, Ayaka Miyano, et al.
Journal of Medical Genetics|March 19, 2011
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencingYoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, et al.
Brain & Development|May 14, 2014
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndromeTakeshi Kouga, Hiroko Shimbo, Mizue Iai, et al.
Brain & Development|February 15, 2011
Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemiaYu Tsuyusaki, Hiroko Shimbo, Takahito Wada, et al.
Journal of Neuroinflammation|October 12, 2024
Minocycline prevents early age-related cognitive decline in a mouse model of intellectual disability caused by ZBTB18/RP58 haploinsufficiencyTomoko Tanaka, Shinobu Hirai, Hiroyuki Manabe, et al.
Brain & Development|January 5, 2016
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher diseaseTaku Omata, Jun-Ichi Nagai, Hiroko Shimbo, et al.
Molecular Psychiatry|January 31, 2023
The mouse model of intellectual disability by ZBTB18/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairmentSayaka Hirai, Hideki Miwa, Hiroko Shimbo, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Brain & Development|April 9, 2016
SSADH deficiency possibly associated with enzyme activity-reducing SNPsTomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, et al.
JIMD Reports|July 13, 2013
A Japanese adult case of guanidinoacetate methyltransferase deficiencyTomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, et al.
Human Genome Variation|September 14, 2022
The ATRX splicing variant c.21-1G>A is asymptomaticKarin Kojima, Takahito Wada, Hiroko Shimbo, et al.
Scientific Reports|July 23, 2025
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblastsShingo Ito, Tatsuki Uemura, Ayaka Miyano, et al.
Journal of Medical Genetics|March 19, 2011
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencingYoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, et al.
Brain & Development|May 14, 2014
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndromeTakeshi Kouga, Hiroko Shimbo, Mizue Iai, et al.
Brain & Development|February 15, 2011
Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemiaYu Tsuyusaki, Hiroko Shimbo, Takahito Wada, et al.
Journal of Neuroinflammation|October 12, 2024
Minocycline prevents early age-related cognitive decline in a mouse model of intellectual disability caused by ZBTB18/RP58 haploinsufficiencyTomoko Tanaka, Shinobu Hirai, Hiroyuki Manabe, et al.
Brain & Development|January 5, 2016
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher diseaseTaku Omata, Jun-Ichi Nagai, Hiroko Shimbo, et al.
Molecular Psychiatry|January 31, 2023
The mouse model of intellectual disability by ZBTB18/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairmentSayaka Hirai, Hideki Miwa, Hiroko Shimbo, et al.
Pageof 4