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Jun Mitsui

Showing results (131-140 of 163) with videos related to

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Journal of Neurology|July 16, 2025
Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case seriesTakahiro Hobara, Masahiro Ando, Yujiro Higuchi, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 14, 2017
Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencingYosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|December 3, 2025
Novel in-frame duplication variant of <i>SOD1</i> in a Japanese family with familial amyotrophic lateral sclerosisMasanori Nakajima, Hiroya Naruse, Yuichi Riku, et al.
JAMA Neurology|May 27, 2015
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, et al.
Neurology. Genetics|April 12, 2016
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrumKagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, et al.
Annals of Clinical and Translational Neurology|February 5, 2024
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesisHiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, et al.
Translational Stroke Research|June 6, 2025
Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous MalformationsHiroki Hongo, Satoru Miyawaki, Keisuke Takai, et al.
Journal of the Peripheral Nervous System : JPNS|January 31, 2018
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in JapanHajime Tanabe, Yujiro Higuchi, Jun-Hui Yuan, et al.
Scientific Reports|April 7, 2019
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cellsShin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, et al.
Journal of Neurology|March 2, 2022
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genesYu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, et al.
Pageof 17

Showing results (131-140 of 163) with videos related to

Sort By:
Pageof 17
Journal of Neurology|July 16, 2025
Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case seriesTakahiro Hobara, Masahiro Ando, Yujiro Higuchi, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 14, 2017
Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencingYosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|December 3, 2025
Novel in-frame duplication variant of <i>SOD1</i> in a Japanese family with familial amyotrophic lateral sclerosisMasanori Nakajima, Hiroya Naruse, Yuichi Riku, et al.
JAMA Neurology|May 27, 2015
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, et al.
Neurology. Genetics|April 12, 2016
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrumKagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, et al.
Annals of Clinical and Translational Neurology|February 5, 2024
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesisHiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, et al.
Translational Stroke Research|June 6, 2025
Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous MalformationsHiroki Hongo, Satoru Miyawaki, Keisuke Takai, et al.
Journal of the Peripheral Nervous System : JPNS|January 31, 2018
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in JapanHajime Tanabe, Yujiro Higuchi, Jun-Hui Yuan, et al.
Scientific Reports|April 7, 2019
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cellsShin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, et al.
Journal of Neurology|March 2, 2022
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genesYu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, et al.
Pageof 17