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Jun Mitsui

Showing results (71-80 of 183) with videos related to

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Brain & Development|April 20, 2023
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe diseaseAkihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, et al.
Internal Medicine (Tokyo, Japan)|July 31, 2024
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic EncephalopathyAkihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, et al.
Journal of Human Genetics|September 14, 2019
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomesHaitian Nan, Yuta Ichinose, Masaki Tanaka, et al.
Journal of the Neurological Sciences|June 22, 2013
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 26, 2018
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALSHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Neuromuscular Disorders : NMD|January 30, 2022
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicismAkatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, et al.
Internal Medicine (Tokyo, Japan)|July 2, 2019
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and AtrophyJumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, et al.
Journal of Human Genetics|December 8, 2025
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletionJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Scientific Reports|September 23, 2018
The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophyFumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, et al.
Bioinformatics (Oxford, England)|November 12, 2013
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencingKoichiro Doi, Taku Monjo, Pham H Hoang, et al.
Pageof 19

Showing results (71-80 of 183) with videos related to

Sort By:
Pageof 19
Brain & Development|April 20, 2023
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe diseaseAkihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, et al.
Internal Medicine (Tokyo, Japan)|July 31, 2024
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic EncephalopathyAkihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, et al.
Journal of Human Genetics|September 14, 2019
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomesHaitian Nan, Yuta Ichinose, Masaki Tanaka, et al.
Journal of the Neurological Sciences|June 22, 2013
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 26, 2018
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALSHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Neuromuscular Disorders : NMD|January 30, 2022
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicismAkatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, et al.
Internal Medicine (Tokyo, Japan)|July 2, 2019
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and AtrophyJumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, et al.
Journal of Human Genetics|December 8, 2025
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletionJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Scientific Reports|September 23, 2018
The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophyFumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, et al.
Bioinformatics (Oxford, England)|November 12, 2013
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencingKoichiro Doi, Taku Monjo, Pham H Hoang, et al.
Pageof 19