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

Year Number of Results
1969 1
1974 1
1978 1
1980 1
1981 1
1982 1
1984 3
1985 3
1986 6
1987 6
1988 2
1989 5
1990 6
1991 4
1992 10
1993 10
1994 5
1995 8
1996 8
1997 7
1998 12
1999 7
2000 15
2001 10
2002 4
2003 1
2004 2
2005 6
2006 3
2007 11
2008 10
2009 11
2010 6
2011 9
2012 5
2013 6
2014 4
2015 6
2016 5
2017 6
2018 7
2019 3
2020 5
2021 4
2022 13
2023 4
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Search Results

249 results
Results by year
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Page 1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: sakiyama y. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Among authors: sakiyama y. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Structural dynamics of the nuclear pore complex.
Sakiyama Y, Panatala R, Lim RYH. Sakiyama Y, et al. Semin Cell Dev Biol. 2017 Aug;68:27-33. doi: 10.1016/j.semcdb.2017.05.021. Epub 2017 Jun 1. Semin Cell Dev Biol. 2017. PMID: 28579449 Review.
[Whipple disease].
Sakiyama Y, Takashima H. Sakiyama Y, et al. Nihon Rinsho. 2015 Sep;73 Suppl 7:728-34. Nihon Rinsho. 2015. PMID: 26480785 Japanese. No abstract available.
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kitao R, Morimoto T, Taniguchi T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Ando M, et al. Among authors: sakiyama y. Ann Clin Transl Neurol. 2022 May;9(5):747-755. doi: 10.1002/acn3.51555. Epub 2022 Apr 28. Ann Clin Transl Neurol. 2022. PMID: 35482004 Free PMC article.
Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy.
Kubota A, Shimizu J, Unuma A, Maeda M, Shirota Y, Kadoya M, Uchio N, Sakiyama Y, Arai N, Shiio Y, Uesaka Y, Hashida H, Iwata NK, Goto J, Nakashima R, Mimori T, Toda T. Kubota A, et al. Among authors: sakiyama y. Neuromuscul Disord. 2022 Jan;32(1):25-32. doi: 10.1016/j.nmd.2021.10.007. Epub 2021 Oct 28. Neuromuscul Disord. 2022. PMID: 34916121
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H. Ando M, et al. Among authors: sakiyama y. Ann Clin Transl Neurol. 2022 Jul;9(7):902-911. doi: 10.1002/acn3.51603. Epub 2022 Jun 22. Ann Clin Transl Neurol. 2022. PMID: 35733399 Free PMC article.
[IgG subclass deficiency and recurrent infections].
Sakiyama Y. Sakiyama Y. Nihon Rinsho Meneki Gakkai Kaishi. 1998 Aug;21(4):145-9. doi: 10.2177/jsci.21.145. Nihon Rinsho Meneki Gakkai Kaishi. 1998. PMID: 9793375 Review. Japanese. No abstract available.
Severe chronic active Epstein-Barr virus infection syndrome.
Okano M, Matsumoto S, Osato T, Sakiyama Y, Thiele GM, Purtilo DT. Okano M, et al. Among authors: sakiyama y. Clin Microbiol Rev. 1991 Jan;4(1):129-35. doi: 10.1128/CMR.4.1.129. Clin Microbiol Rev. 1991. PMID: 1848476 Free PMC article. Review.
249 results