Search research articles
Contact Us
Filters
Showing results (61-70 of 148) with videos related to
Page
of 15
Sort By:
Rinsho Shinkeigaku = Clinical Neurology
|
April 23, 2013
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]
Ryogen Sasaki, Masanori P Takahashi, Yosuke Kokunai, et al.
Neurology
|
February 27, 2008
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1
M Nakamori, T Kimura, T Kubota, et al.
Brain & Development
|
June 7, 2021
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
Tomoya Kubota, Shin Nabatame, Ruka Sato, et al.
Muscle & Nerve
|
March 5, 2020
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation
Riho Horie, Tomoya Kubota, Jinsoo Koh, et al.
Journal of the Neurological Sciences
|
June 3, 2021
Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Manami Hama, Riho Horie, Tomoya Kubota, et al.
Muscle & Nerve
|
September 18, 2022
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations
Maki Shibano, Tomoya Kubota, Norito Kokubun, et al.
Eneurologicalsci
|
June 9, 2025
Phosphorylated TDP-43 and tau deposition around the tip of deep brain stimulation leads
Goichi Beck, Yuki Yonenobu, Kenichiro Maeda, et al.
Frontiers in Neurology
|
October 27, 2025
Treatment patterns and impact of glucocorticoids on health outcomes in generalized myasthenia gravis: a retrospective observational study based on the Medical Data Vision database in Japan
Hirofumi Teranishi, Koichi Tsuda, Daisuke Harada, et al.
Journal of Neuromuscular Diseases
|
August 21, 2023
Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study
Haruo Fujino, Shugo Suwazono, Yukihiko Ueda, et al.
Human Mutation
|
March 18, 2011
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
Tomoya Kubota, Xavier Roca, Takashi Kimura, et al.
Page
of 15
Search research articles
Search
Showing results (61-70 of 148) with videos related to
Sort By:
Page
of 15
Rinsho Shinkeigaku = Clinical Neurology
|
April 23, 2013
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease]
Ryogen Sasaki, Masanori P Takahashi, Yosuke Kokunai, et al.
Neurology
|
February 27, 2008
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1
M Nakamori, T Kimura, T Kubota, et al.
Brain & Development
|
June 7, 2021
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
Tomoya Kubota, Shin Nabatame, Ruka Sato, et al.
Muscle & Nerve
|
March 5, 2020
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation
Riho Horie, Tomoya Kubota, Jinsoo Koh, et al.
Journal of the Neurological Sciences
|
June 3, 2021
Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Manami Hama, Riho Horie, Tomoya Kubota, et al.
Muscle & Nerve
|
September 18, 2022
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations
Maki Shibano, Tomoya Kubota, Norito Kokubun, et al.
Eneurologicalsci
|
June 9, 2025
Phosphorylated TDP-43 and tau deposition around the tip of deep brain stimulation leads
Goichi Beck, Yuki Yonenobu, Kenichiro Maeda, et al.
Frontiers in Neurology
|
October 27, 2025
Treatment patterns and impact of glucocorticoids on health outcomes in generalized myasthenia gravis: a retrospective observational study based on the Medical Data Vision database in Japan
Hirofumi Teranishi, Koichi Tsuda, Daisuke Harada, et al.
Journal of Neuromuscular Diseases
|
August 21, 2023
Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study
Haruo Fujino, Shugo Suwazono, Yukihiko Ueda, et al.
Human Mutation
|
March 18, 2011
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
Tomoya Kubota, Xavier Roca, Takashi Kimura, et al.
Page
of 15