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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. Among authors: suzuki ik. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Stress-induced unfolded protein response contributes to Zika virus-associated microcephaly.
Gladwyn-Ng I, Cordón-Barris L, Alfano C, Creppe C, Couderc T, Morelli G, Thelen N, America M, Bessières B, Encha-Razavi F, Bonnière M, Suzuki IK, Flamand M, Vanderhaeghen P, Thiry M, Lecuit M, Nguyen L. Gladwyn-Ng I, et al. Among authors: suzuki ik. Nat Neurosci. 2018 Jan;21(1):63-71. doi: 10.1038/s41593-017-0038-4. Epub 2017 Dec 11. Nat Neurosci. 2018. PMID: 29230053
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Paus T, Pa… See abstract for full author list ➔ Sønderby IE, et al. Among authors: suzuki ik. Transl Psychiatry. 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. Transl Psychiatry. 2021. PMID: 33753722 Free PMC article.
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