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Jun Mitsui

Showing results (61-70 of 183) with videos related to

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Journal of Human Genetics|September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese populationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Stem Cell Research|February 18, 2018
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A geneYasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, et al.
Neurology. Genetics|April 12, 2016
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, et al.
Journal of Clinical Lipidology|July 3, 2026
Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysisMasaki Tanaka, Sachiko Okazaki, Manabu Takahashi, et al.
Cancers|July 9, 2022
<i>NF2</i> Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing MeningiomasYu Sakai, Satoru Miyawaki, Yu Teranishi, et al.
Journal of Human Genetics|October 11, 2018
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.
Journal of Human Genetics|November 10, 2018
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.
Internal Medicine (Tokyo, Japan)|June 11, 2019
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich AtaxiaHiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, et al.
Cerebellum (London, England)|December 28, 2024
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual DisabilityAkihiko Mitsutake, Mizuho Kawai, Kenta Orimo, et al.
Internal Medicine (Tokyo, Japan)|August 9, 2023
Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1Naoki Takegami, Takashi Matsukawa, Masashi Hamada, et al.
Pageof 19

Showing results (61-70 of 183) with videos related to

Sort By:
Pageof 19
Journal of Human Genetics|September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese populationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Stem Cell Research|February 18, 2018
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A geneYasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, et al.
Neurology. Genetics|April 12, 2016
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, et al.
Journal of Clinical Lipidology|July 3, 2026
Vitamin K1 as a screening marker to facilitate the genetic diagnosis of class I familial hypobetalipoproteinemia: A prospective cohort study with a systematic review analysisMasaki Tanaka, Sachiko Okazaki, Manabu Takahashi, et al.
Cancers|July 9, 2022
<i>NF2</i> Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing MeningiomasYu Sakai, Satoru Miyawaki, Yu Teranishi, et al.
Journal of Human Genetics|October 11, 2018
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.
Journal of Human Genetics|November 10, 2018
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.
Internal Medicine (Tokyo, Japan)|June 11, 2019
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich AtaxiaHiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, et al.
Cerebellum (London, England)|December 28, 2024
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual DisabilityAkihiko Mitsutake, Mizuho Kawai, Kenta Orimo, et al.
Internal Medicine (Tokyo, Japan)|August 9, 2023
Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1Naoki Takegami, Takashi Matsukawa, Masashi Hamada, et al.
Pageof 19