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Akihiro Hashiguchi

Showing results (21-30 of 101) with videos related to

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Internal Medicine (Tokyo, Japan)|June 21, 2021
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina ThickeningSho Aoki, Kazuaki Nagashima, Makoto Shibata, et al.
Rinsho Shinkeigaku = Clinical Neurology|August 3, 2018
[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report]Chisato Shimizu, Hiroo Kasahara, Natsumi Furuta, et al.
Neuromuscular Disorders : NMD|February 28, 2007
Different pattern of HSP47 expression in skeletal muscle of patients with neuromuscular diseasesItsuro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, et al.
Brain & Development|September 14, 2017
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, et al.
Frontiers in Neurology|June 30, 2023
Case report: Mitochondrial trifunctional protein deficiency caused by <i>HADHB</i> gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patientRuoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, et al.
Neuromuscular Disorders : NMD|August 30, 2017
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvementDaisuke Kondo, Koji Shinoda, Ken-Ichiro Yamashita, et al.
Journal of Neurology|July 30, 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series studyJun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, et al.
BMC Musculoskeletal Disorders|May 6, 2023
HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case reportEiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, et al.
Neurogenetics|August 1, 2012
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutationShoko Tokunaga, Akihiro Hashiguchi, Akiko Yoshimura, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysisTakashi Nakajima, Toshio Saito, Akihiro Hashiguchi, et al.
Pageof 11

Showing results (21-30 of 101) with videos related to

Sort By:
Pageof 11
Internal Medicine (Tokyo, Japan)|June 21, 2021
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina ThickeningSho Aoki, Kazuaki Nagashima, Makoto Shibata, et al.
Rinsho Shinkeigaku = Clinical Neurology|August 3, 2018
[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report]Chisato Shimizu, Hiroo Kasahara, Natsumi Furuta, et al.
Neuromuscular Disorders : NMD|February 28, 2007
Different pattern of HSP47 expression in skeletal muscle of patients with neuromuscular diseasesItsuro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, et al.
Brain & Development|September 14, 2017
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, et al.
Frontiers in Neurology|June 30, 2023
Case report: Mitochondrial trifunctional protein deficiency caused by <i>HADHB</i> gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patientRuoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, et al.
Neuromuscular Disorders : NMD|August 30, 2017
A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvementDaisuke Kondo, Koji Shinoda, Ken-Ichiro Yamashita, et al.
Journal of Neurology|July 30, 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series studyJun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, et al.
BMC Musculoskeletal Disorders|May 6, 2023
HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case reportEiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, et al.
Neurogenetics|August 1, 2012
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutationShoko Tokunaga, Akihiro Hashiguchi, Akiko Yoshimura, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysisTakashi Nakajima, Toshio Saito, Akihiro Hashiguchi, et al.
Pageof 11