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Pathological impact of SMN2 mis-splicing in adult SMA mice.
Sahashi K, Ling KK, Hua Y, Wilkinson JE, Nomakuchi T, Rigo F, Hung G, Xu D, Jiang YP, Lin RZ, Ko CP, Bennett CF, Krainer AR. Sahashi K, et al. Among authors: nomakuchi t. EMBO Mol Med. 2013 Oct;5(10):1586-601. doi: 10.1002/emmm.201302567. Epub 2013 Sep 9. EMBO Mol Med. 2013. PMID: 24014320 Free PMC article.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan A, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch TC, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: nomakuchi t. Genet Med. 2024 Dec 27:101348. doi: 10.1016/j.gim.2024.101348. Online ahead of print. Genet Med. 2024. PMID: 39737487 Free article.
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: nomakuchi tt. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.
16 results