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Jun Mitsui

Showing results (51-60 of 183) with videos related to

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Journal of the Peripheral Nervous System : JPNS|May 12, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsiesNorifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, et al.
Journal of Human Genetics|April 22, 2025
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegenerationSo Okubo, Takashi Matsukawa, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)|April 23, 2026
A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 2Yumiko Nakamura, Toshiyuki Kakumoto, Munehiro Yoshimoto, et al.
Clinical Case Reports|February 14, 2022
Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the <i>FBN2</i> geneHiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, et al.
European Journal of Medical Genetics|January 3, 2019
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disabilityYumi Enomoto, Yoshinori Tsurusaki, Takayuki Yokoi, et al.
Internal Medicine (Tokyo, Japan)|February 2, 2025
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed AtaxiaAkihiko Mitsutake, Takashi Matsukawa, Rimi Hino, et al.
Journal of Human Genetics|July 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.
Parkinsonism & Related Disorders|October 11, 2020
Familial dementia with Lewy bodies with VPS13C mutationsRyota Kobayashi, Hiroya Naruse, Shingo Koyama, et al.
Journal of Human Genetics|September 20, 2024
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.
Neurogenetics|February 20, 2026
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15Akihiko Mitsutake, Takashi Matsukawa, Kenta Orimo, et al.
Pageof 19

Showing results (51-60 of 183) with videos related to

Sort By:
Pageof 19
Journal of the Peripheral Nervous System : JPNS|May 12, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsiesNorifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, et al.
Journal of Human Genetics|April 22, 2025
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegenerationSo Okubo, Takashi Matsukawa, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)|April 23, 2026
A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 2Yumiko Nakamura, Toshiyuki Kakumoto, Munehiro Yoshimoto, et al.
Clinical Case Reports|February 14, 2022
Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the <i>FBN2</i> geneHiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, et al.
European Journal of Medical Genetics|January 3, 2019
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disabilityYumi Enomoto, Yoshinori Tsurusaki, Takayuki Yokoi, et al.
Internal Medicine (Tokyo, Japan)|February 2, 2025
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed AtaxiaAkihiko Mitsutake, Takashi Matsukawa, Rimi Hino, et al.
Journal of Human Genetics|July 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.
Parkinsonism & Related Disorders|October 11, 2020
Familial dementia with Lewy bodies with VPS13C mutationsRyota Kobayashi, Hiroya Naruse, Shingo Koyama, et al.
Journal of Human Genetics|September 20, 2024
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.
Neurogenetics|February 20, 2026
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15Akihiko Mitsutake, Takashi Matsukawa, Kenta Orimo, et al.
Pageof 19