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Internal Medicine (Tokyo, Japan)
|
August 9, 2023
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, et al.
Annals of Neurology
|
January 22, 2022
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis
Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, et al.
American Journal of Human Genetics
|
July 6, 2010
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
Jun Mitsui, Yuji Takahashi, Jun Goto, et al.
Neurology. Genetics
|
September 3, 2025
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant: Mild Clinical and MRI Findings
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Cerebellum (London, England)
|
February 3, 2017
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, et al.
Journal of Neurology
|
June 29, 2026
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, et al.
Plos One
|
May 30, 2009
SNP haplotype mapping in a small ALS family
Katherine A Dick Krueger, Shoji Tsuji, Yoko Fukuda, et al.
Journal of the Neurological Sciences
|
December 27, 2016
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, et al.
Neurology. Genetics
|
October 27, 2025
Erratum: Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant: Mild Clinical and MRI Findings
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Annals of Clinical and Translational Neurology
|
October 1, 2025
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.
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Search research articles
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Showing results (101-110 of 183) with videos related to
Sort By:
Page
of 19
Internal Medicine (Tokyo, Japan)
|
August 9, 2023
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
Nanaka Yamaguchi-Takegami, Akiko Takahashi, Jun Mitsui, et al.
Annals of Neurology
|
January 22, 2022
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis
Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, et al.
American Journal of Human Genetics
|
July 6, 2010
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
Jun Mitsui, Yuji Takahashi, Jun Goto, et al.
Neurology. Genetics
|
September 3, 2025
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 >A Variant: Mild Clinical and MRI Findings
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Cerebellum (London, England)
|
February 3, 2017
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, et al.
Journal of Neurology
|
June 29, 2026
Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, et al.
Plos One
|
May 30, 2009
SNP haplotype mapping in a small ALS family
Katherine A Dick Krueger, Shoji Tsuji, Yoko Fukuda, et al.
Journal of the Neurological Sciences
|
December 27, 2016
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, et al.
Neurology. Genetics
|
October 27, 2025
Erratum: Vanishing White Matter Disease With <i>EIF2B2</i> c.254T>A Variant: Mild Clinical and MRI Findings
Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Annals of Clinical and Translational Neurology
|
October 1, 2025
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights
Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.
Page
of 19