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Hiroya Naruse

Showing results (21-30 of 32) with videos related to

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Journal of Neurology|February 28, 2026
Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLCNatsuko Nakamura, Kazushige Tsunoda, Akihiko Mitsutake, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 4, 2024
A novel <i>TBK1</i> loss-of-function variant associated with ALS and parkinsonism phenotypesHiroya Naruse, Chifumi Iseki, Jun Mitsui, et al.
Journal of Neurology|December 12, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosisSo Okubo, Hiroya Naruse, Hiroyuki Ishiura, et al.
Neurogenetics|August 21, 2020
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosisHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Annals of Neurology|November 20, 2025
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift VariantHiroya Naruse, Jun Mitsui, Akatsuki Kubota, et al.
Neurobiology of Aging|October 17, 2017
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of the Neurological Sciences|April 8, 2025
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathyKenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, 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.
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.
Nature Aging|July 20, 2023
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficitsDan Li, Yoshikazu Johmura, Satoru Morimoto, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Journal of Neurology|February 28, 2026
Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLCNatsuko Nakamura, Kazushige Tsunoda, Akihiko Mitsutake, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 4, 2024
A novel <i>TBK1</i> loss-of-function variant associated with ALS and parkinsonism phenotypesHiroya Naruse, Chifumi Iseki, Jun Mitsui, et al.
Journal of Neurology|December 12, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosisSo Okubo, Hiroya Naruse, Hiroyuki Ishiura, et al.
Neurogenetics|August 21, 2020
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosisHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Annals of Neurology|November 20, 2025
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift VariantHiroya Naruse, Jun Mitsui, Akatsuki Kubota, et al.
Neurobiology of Aging|October 17, 2017
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of the Neurological Sciences|April 8, 2025
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathyKenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, 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.
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.
Nature Aging|July 20, 2023
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficitsDan Li, Yoshikazu Johmura, Satoru Morimoto, et al.
Pageof 4