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Journal of the Peripheral Nervous System : JPNS
|
June 28, 2012
A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
Kensuke Shiga, Yuichi Noto, Ikuko Mizuta, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
June 16, 2020
[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene]
Ruriko Kitao, Yutaka Honma, Akihiro Hashiguchi, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
December 23, 2017
[A case of chronic progressive neuro-Behçet disease with extensive cerebral atrophy and elevated CSF IL-6 activity treated with infliximab]
Kyosuke Hamada, Ran Takei, Yusuke Sakiyama, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
May 1, 2018
[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient]
Makoto Takemaru, Yutaka Shimoe, Kota Sato, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
July 24, 2025
[A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)]
Yuko Ito, Chikako Ochi, Yuki Yamanishi, et al.
Internal Medicine (Tokyo, Japan)
|
November 22, 2021
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
Shunichi Shirakawa, Tatsufumi Murakami, Akihiro Hashiguchi, et al.
Pediatric Neurology
|
September 7, 2014
Extremely severe complicated spastic paraplegia 3A with neonatal onset
Takahiro Yonekawa, Yasushi Oya, Yujiro Higuchi, et al.
Internal Medicine (Tokyo, Japan)
|
February 15, 2023
Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
March 1, 2022
[A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant]
Shohei Beppu, Kensuke Ikenaka, Taiki Yabumoto, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
October 27, 2017
[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report]
Takaki Taniguchi, Youichi Hokezu, Takashi Okada, et al.
Page
of 11
Search research articles
Search
Showing results (11-20 of 101) with videos related to
Sort By:
Page
of 11
Journal of the Peripheral Nervous System : JPNS
|
June 28, 2012
A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
Kensuke Shiga, Yuichi Noto, Ikuko Mizuta, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
June 16, 2020
[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene]
Ruriko Kitao, Yutaka Honma, Akihiro Hashiguchi, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
December 23, 2017
[A case of chronic progressive neuro-Behçet disease with extensive cerebral atrophy and elevated CSF IL-6 activity treated with infliximab]
Kyosuke Hamada, Ran Takei, Yusuke Sakiyama, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
May 1, 2018
[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient]
Makoto Takemaru, Yutaka Shimoe, Kota Sato, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
July 24, 2025
[A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)]
Yuko Ito, Chikako Ochi, Yuki Yamanishi, et al.
Internal Medicine (Tokyo, Japan)
|
November 22, 2021
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
Shunichi Shirakawa, Tatsufumi Murakami, Akihiro Hashiguchi, et al.
Pediatric Neurology
|
September 7, 2014
Extremely severe complicated spastic paraplegia 3A with neonatal onset
Takahiro Yonekawa, Yasushi Oya, Yujiro Higuchi, et al.
Internal Medicine (Tokyo, Japan)
|
February 15, 2023
Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
March 1, 2022
[A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant]
Shohei Beppu, Kensuke Ikenaka, Taiki Yabumoto, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
October 27, 2017
[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report]
Takaki Taniguchi, Youichi Hokezu, Takashi Okada, et al.
Page
of 11