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Takeshi Mizuguchi

Showing results (161-170 of 185) with videos related to

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Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Nature Genetics|July 24, 2019
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion diseaseJun Sone, Satomi Mitsuhashi, Atsushi Fujita, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 30, 2024
Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i> ataxia) in JapaneseSatoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
Brain : a Journal of Neurology|March 31, 2022
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndromeSatoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, et al.
NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Journal of Clinical Neurology (Seoul, Korea)|July 10, 2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South KoreaMin Young Chun, Sang Won Seo, Hyemin Jang, et al.
Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.
Pageof 19

Showing results (161-170 of 185) with videos related to

Sort By:
Pageof 19
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Nature Genetics|July 24, 2019
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion diseaseJun Sone, Satomi Mitsuhashi, Atsushi Fujita, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 30, 2024
Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i> ataxia) in JapaneseSatoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
Brain : a Journal of Neurology|March 31, 2022
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndromeSatoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, et al.
NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
Journal of Clinical Neurology (Seoul, Korea)|July 10, 2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South KoreaMin Young Chun, Sang Won Seo, Hyemin Jang, et al.
Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.
Pageof 19