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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: yamaguchi y. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K. Nagasaka M, et al. Among authors: yamaguchi y. J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27. J Hum Genet. 2017. PMID: 28446798
Bisecting GlcNAc Is a General Suppressor of Terminal Modification of N-glycan.
Nakano M, Mishra SK, Tokoro Y, Sato K, Nakajima K, Yamaguchi Y, Taniguchi N, Kizuka Y. Nakano M, et al. Among authors: yamaguchi y. Mol Cell Proteomics. 2019 Oct;18(10):2044-2057. doi: 10.1074/mcp.RA119.001534. Epub 2019 Aug 2. Mol Cell Proteomics. 2019. PMID: 31375533 Free PMC article.
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[No authors listed] [No authors listed] PMID: 33451477
5,120 results