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Akihiro Hashiguchi

Showing results (61-70 of 101) with videos related to

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Journal of Human Genetics|December 8, 2017
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset diseaseRyota Hikiami, Hirofumi Yamashita, Natsuko Koita, et al.
Neuromuscular Disorders : NMD|May 25, 2019
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variabilityToshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, et al.
Internal Medicine (Tokyo, Japan)|July 18, 2014
Partial deficiency of emerin caused by a splice site mutation in EMDJunhui Yuan, Masahiro Ando, Itsuro Higuchi, et al.
Neurogenetics|June 17, 2006
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N geneYuji Okamoto, Hiroshi Takashima, Itsuro Higuchi, et al.
Journal of the Neurological Sciences|July 4, 2006
MRI studies of spinal visceral larva migrans syndromeFujio Umehara, Hideki Ookatsu, Daisuke Hayashi, et al.
Journal of Human Genetics|February 17, 2017
Clinical diversity caused by novel IGHMBP2 variantsJun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, et al.
Cerebellum (London, England)|September 9, 2021
Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in JapanYujiro Higuchi, Masahiro Ando, Akiko Yoshimura, et al.
Brain & Development|September 19, 2015
A mild case of giant axonal neuropathy without central nervous system manifestationReiko Koichihara, Takashi Saito, Akihiko Ishiyama, et al.
Aging Cell|July 9, 2019
(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axisNaohiro Yoshida, Jin Endo, Kenichiro Kinouchi, et al.
Journal of Human Genetics|January 12, 2018
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
Journal of Human Genetics|December 8, 2017
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset diseaseRyota Hikiami, Hirofumi Yamashita, Natsuko Koita, et al.
Neuromuscular Disorders : NMD|May 25, 2019
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variabilityToshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, et al.
Internal Medicine (Tokyo, Japan)|July 18, 2014
Partial deficiency of emerin caused by a splice site mutation in EMDJunhui Yuan, Masahiro Ando, Itsuro Higuchi, et al.
Neurogenetics|June 17, 2006
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N geneYuji Okamoto, Hiroshi Takashima, Itsuro Higuchi, et al.
Journal of the Neurological Sciences|July 4, 2006
MRI studies of spinal visceral larva migrans syndromeFujio Umehara, Hideki Ookatsu, Daisuke Hayashi, et al.
Journal of Human Genetics|February 17, 2017
Clinical diversity caused by novel IGHMBP2 variantsJun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, et al.
Cerebellum (London, England)|September 9, 2021
Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in JapanYujiro Higuchi, Masahiro Ando, Akiko Yoshimura, et al.
Brain & Development|September 19, 2015
A mild case of giant axonal neuropathy without central nervous system manifestationReiko Koichihara, Takashi Saito, Akihiko Ishiyama, et al.
Aging Cell|July 9, 2019
(Pro)renin receptor accelerates development of sarcopenia via activation of Wnt/YAP signaling axisNaohiro Yoshida, Jin Endo, Kenichiro Kinouchi, et al.
Journal of Human Genetics|January 12, 2018
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, et al.
Pageof 11