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Jun Sone

Showing results (71-80 of 84) with videos related to

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Acta Neuropathologica Communications|May 2, 2023
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairmentJun Sone, Shinji Ueno, Akio Akagi, et al.
Nagoya Journal of Medical Science|September 23, 2021
A case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: long-term observation of neurological symptoms after autologous stem-cell transplantationTakashi Ando, Takahiko Sato, Shingo Kurahashi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 22, 2023
Clinical phenotypic diversity of <i>NOTCH2NLC</i>-related disease in the largest case series of inherited peripheral neuropathy in JapanMasahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.
Neuron|April 22, 2021
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseasesManon Boivin, Jianwen Deng, Véronique Pfister, et al.
Clinical Epigenetics|November 14, 2021
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencingHiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, et al.
Neurobiology of Aging|December 19, 2020
The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathyTakashi Ando, Ryoichi Nakamura, Satoshi Kuru, et al.
Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.
Scientific Reports|April 9, 2026
Asthma-like bronchodilator responsiveness in patients with neuronal intranuclear inclusion diseaseDaisuke Tahara, Nao Tahara, Chisato Tamai, et al.
Neurobiology of Aging|January 9, 2016
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohortRyoichi Nakamura, Jun Sone, Naoki Atsuta, et al.
PNAS Nexus|August 12, 2024
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca<sup>2+</sup> homeostasisAya Ikeda, Hongrui Meng, Daisuke Taniguchi, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
Acta Neuropathologica Communications|May 2, 2023
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairmentJun Sone, Shinji Ueno, Akio Akagi, et al.
Nagoya Journal of Medical Science|September 23, 2021
A case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: long-term observation of neurological symptoms after autologous stem-cell transplantationTakashi Ando, Takahiko Sato, Shingo Kurahashi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 22, 2023
Clinical phenotypic diversity of <i>NOTCH2NLC</i>-related disease in the largest case series of inherited peripheral neuropathy in JapanMasahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.
Neuron|April 22, 2021
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseasesManon Boivin, Jianwen Deng, Véronique Pfister, et al.
Clinical Epigenetics|November 14, 2021
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencingHiromi Fukuda, Daisuke Yamaguchi, Kristofor Nyquist, et al.
Neurobiology of Aging|December 19, 2020
The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathyTakashi Ando, Ryoichi Nakamura, Satoshi Kuru, et al.
Annals of Neurology|August 22, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with LeukoencephalopathyMasaki Okubo, Hiroshi Doi, Ryoko Fukai, et al.
Scientific Reports|April 9, 2026
Asthma-like bronchodilator responsiveness in patients with neuronal intranuclear inclusion diseaseDaisuke Tahara, Nao Tahara, Chisato Tamai, et al.
Neurobiology of Aging|January 9, 2016
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohortRyoichi Nakamura, Jun Sone, Naoki Atsuta, et al.
PNAS Nexus|August 12, 2024
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca<sup>2+</sup> homeostasisAya Ikeda, Hongrui Meng, Daisuke Taniguchi, et al.
Pageof 9