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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 2
2009 1
2010 1
2012 1
2013 3
2014 2
2015 1
2016 4
2017 6
2018 2
2019 3
2020 6
2021 12
2022 11
2023 13
2024 2

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62 results

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Page 1
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Sone J, et al. Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25. Brain. 2016. PMID: 27797808 Free PMC article.
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N. Boivin M, et al. Among authors: sone j. Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21. Neuron. 2021. PMID: 33887199 Free PMC article.
[Neuronal intranuclear inclusion disease (NIID)].
Sone J. Sone J. Rinsho Shinkeigaku. 2020 Oct 24;60(10):653-662. doi: 10.5692/clinicalneurol.cn-001417. Epub 2020 Sep 5. Rinsho Shinkeigaku. 2020. PMID: 32893241 Review. Japanese.
NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Sone J, Ueno S, Akagi A, Miyahara H, Tamai C, Riku Y, Yabata H, Koizumi R, Hattori T, Hirose H, Koyanagi Y, Kobayashi R, Okada H, Kishimoto Y, Hashizume Y, Sobue G, Yoshida M, Iwasaki Y. Sone J, et al. Acta Neuropathol Commun. 2023 May 2;11(1):71. doi: 10.1186/s40478-023-01564-3. Acta Neuropathol Commun. 2023. PMID: 37131242 Free PMC article.
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Dozono M, Hobara T, Kojima F, Noguchi Y, Takeuchi M, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Sone J, Takashima H. Ando M, et al. Among authors: sone j. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):622-630. doi: 10.1136/jnnp-2022-330769. Epub 2023 Mar 22. J Neurol Neurosurg Psychiatry. 2023. PMID: 36948577
[Neuronal Intranuclear Inclusion Disease].
Sone J, Sobue G. Sone J, et al. Brain Nerve. 2017 Jan;69(1):5-16. doi: 10.11477/mf.1416200628. Brain Nerve. 2017. PMID: 28126973 Japanese.
62 results