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Jun Mitsui

Showing results (41-50 of 183) with videos related to

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Journal of the Neurological Sciences|August 29, 2021
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian populationKristine Joyce Porto, Makito Hirano, Jun Mitsui, et al.
Neurogenetics|January 27, 2011
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, et al.
Journal of the Neurological Sciences|January 31, 2006
Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson diseaseJun Mitsui, Yuko Saito, Toshimitsu Momose, et al.
Scientific Reports|March 27, 2021
Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meningesAtsushi Okano, Satoru Miyawaki, Hiroki Hongo, et al.
Cerebellum (London, England)|October 13, 2022
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot DeformityYuka Hama, Hidetoshi Date, Akiko Fujimoto, et al.
Internal Medicine (Tokyo, Japan)|December 10, 2019
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic ParaplegiaMasanori Kurihara, Hiroyuki Ishiura, Taro Bannai, et al.
Human Mutation|June 3, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivationKimiko Katoh, Kaori Aiba, Daisuke Fukushi, et al.
European Journal of Human Genetics : EJHG|November 28, 2024
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese populationToshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, et al.
Neurology. Genetics|March 8, 2017
Novel <i>GBE1</i> mutation in a Japanese family with adult polyglucosan body diseaseYasuo Harigaya, Takashi Matsukawa, Yukio Fujita, et al.
Cerebellum (London, England)|November 2, 2022
Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot DeformityYuka Hama, Hidetoshi Date, Akiko Fujimoto, et al.
Pageof 19

Showing results (41-50 of 183) with videos related to

Sort By:
Pageof 19
Journal of the Neurological Sciences|August 29, 2021
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian populationKristine Joyce Porto, Makito Hirano, Jun Mitsui, et al.
Neurogenetics|January 27, 2011
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, et al.
Journal of the Neurological Sciences|January 31, 2006
Pathology of the sympathetic nervous system corresponding to the decreased cardiac uptake in 123I-metaiodobenzylguanidine (MIBG) scintigraphy in a patient with Parkinson diseaseJun Mitsui, Yuko Saito, Toshimitsu Momose, et al.
Scientific Reports|March 27, 2021
Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meningesAtsushi Okano, Satoru Miyawaki, Hiroki Hongo, et al.
Cerebellum (London, England)|October 13, 2022
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot DeformityYuka Hama, Hidetoshi Date, Akiko Fujimoto, et al.
Internal Medicine (Tokyo, Japan)|December 10, 2019
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic ParaplegiaMasanori Kurihara, Hiroyuki Ishiura, Taro Bannai, et al.
Human Mutation|June 3, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivationKimiko Katoh, Kaori Aiba, Daisuke Fukushi, et al.
European Journal of Human Genetics : EJHG|November 28, 2024
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese populationToshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, et al.
Neurology. Genetics|March 8, 2017
Novel <i>GBE1</i> mutation in a Japanese family with adult polyglucosan body diseaseYasuo Harigaya, Takashi Matsukawa, Yukio Fujita, et al.
Cerebellum (London, England)|November 2, 2022
Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot DeformityYuka Hama, Hidetoshi Date, Akiko Fujimoto, et al.
Pageof 19