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BMC Medical Genetics
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April 3, 2020
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, et al.
Genes & Development
|
October 4, 2006
Sustained Notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis
Xiaoyan Zhu, Jie Zhang, Jessica Tollkuhn, et al.
Journal of Human Genetics
|
March 20, 2021
Analysis of genetic risk factors in Japanese patients with Parkinson's disease
Yuhei Kanaya, Kodai Kume, Hiroyuki Morino, et al.
Molecular Brain
|
December 31, 2015
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
Hiroyuki Morino, Yukiko Matsuda, Keiko Muguruma, et al.
Neurobiology of Disease
|
December 9, 2020
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation
Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 22, 2019
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation
Takashi Kurashige, Hiroyuki Morino, Yukiko Matsuda, et al.
Journal of Human Genetics
|
January 8, 2020
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
Yui Tada, Kodai Kume, Yukiko Matsuda, et al.
Neurology. Genetics
|
February 12, 2020
Biallelic mutation of <i>HSD17B4</i> induces middle age-onset spinocerebellar ataxia
Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.
Plos One
|
June 23, 2023
Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection
Masaya Fukushi, Ryosuke Ohsawa, Yasushi Okinaka, et al.
Neurology
|
October 31, 2014
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino, Sarah B Pierce, Yukiko Matsuda, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
BMC Medical Genetics
|
April 3, 2020
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, et al.
Genes & Development
|
October 4, 2006
Sustained Notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis
Xiaoyan Zhu, Jie Zhang, Jessica Tollkuhn, et al.
Journal of Human Genetics
|
March 20, 2021
Analysis of genetic risk factors in Japanese patients with Parkinson's disease
Yuhei Kanaya, Kodai Kume, Hiroyuki Morino, et al.
Molecular Brain
|
December 31, 2015
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
Hiroyuki Morino, Yukiko Matsuda, Keiko Muguruma, et al.
Neurobiology of Disease
|
December 9, 2020
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation
Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 22, 2019
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation
Takashi Kurashige, Hiroyuki Morino, Yukiko Matsuda, et al.
Journal of Human Genetics
|
January 8, 2020
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
Yui Tada, Kodai Kume, Yukiko Matsuda, et al.
Neurology. Genetics
|
February 12, 2020
Biallelic mutation of <i>HSD17B4</i> induces middle age-onset spinocerebellar ataxia
Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.
Plos One
|
June 23, 2023
Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection
Masaya Fukushi, Ryosuke Ohsawa, Yasushi Okinaka, et al.
Neurology
|
October 31, 2014
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
Hiroyuki Morino, Sarah B Pierce, Yukiko Matsuda, et al.
Page
of 3