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Jun Mitsui

Showing results (91-100 of 183) with videos related to

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Journal of the Neurological Sciences|July 25, 2023
A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variantKenta Orimo, Toshiyuki Kakumoto, Ryo Hara, et al.
Plos One|February 15, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patientsAtsushi Ishii, Yoshiaki Saito, Jun Mitsui, et al.
Acta Neuropathologica Communications|August 23, 2024
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implicationsTakahiro Hobara, Yujiro Higuchi, Mari Yoshida, et al.
Archives of Neurology|May 13, 2009
Mutations for Gaucher disease confer high susceptibility to Parkinson diseaseJun Mitsui, Ikuko Mizuta, Atsushi Toyoda, et al.
Journal of Neurology|December 12, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosisSo Okubo, Hiroya Naruse, Hiroyuki Ishiura, et al.
Neurogenetics|May 25, 2012
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish typeMakiko Taira, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of Medical Genetics|October 17, 2020
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, et al.
Archives of Neurology|May 29, 2012
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of JapanHiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 4, 2024
A novel <i>TBK1</i> loss-of-function variant associated with ALS and parkinsonism phenotypesHiroya Naruse, Chifumi Iseki, Jun Mitsui, et al.
Neurology. Genetics|October 30, 2025
Frameshift and Copy Number Variants in <i>SACS</i>-Related NeuropathyJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Pageof 19

Showing results (91-100 of 183) with videos related to

Sort By:
Pageof 19
Journal of the Neurological Sciences|July 25, 2023
A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variantKenta Orimo, Toshiyuki Kakumoto, Ryo Hara, et al.
Plos One|February 15, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patientsAtsushi Ishii, Yoshiaki Saito, Jun Mitsui, et al.
Acta Neuropathologica Communications|August 23, 2024
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implicationsTakahiro Hobara, Yujiro Higuchi, Mari Yoshida, et al.
Archives of Neurology|May 13, 2009
Mutations for Gaucher disease confer high susceptibility to Parkinson diseaseJun Mitsui, Ikuko Mizuta, Atsushi Toyoda, et al.
Journal of Neurology|December 12, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosisSo Okubo, Hiroya Naruse, Hiroyuki Ishiura, et al.
Neurogenetics|May 25, 2012
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish typeMakiko Taira, Hiroyuki Ishiura, Jun Mitsui, et al.
Journal of Medical Genetics|October 17, 2020
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2Yu Teranishi, Satoru Miyawaki, Hiroki Hongo, et al.
Archives of Neurology|May 29, 2012
C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of JapanHiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 4, 2024
A novel <i>TBK1</i> loss-of-function variant associated with ALS and parkinsonism phenotypesHiroya Naruse, Chifumi Iseki, Jun Mitsui, et al.
Neurology. Genetics|October 30, 2025
Frameshift and Copy Number Variants in <i>SACS</i>-Related NeuropathyJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.
Pageof 19