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Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
Agra Almeida Quadros AR, Li Z, Wang X, Ndayambaje IS, Aryal S, Ramesh N, Nolan M, Jayakumar R, Han Y, Stillman H, Aguilar C, Wheeler HJ, Connors T, Lopez-Erauskin J, Baughn MW, Melamed Z, Beccari MS, Olmedo Martínez L, Canori M, Lee CZ, Moran L, Draper I, Kopin AS, Oakley DH, Dickson DW, Cleveland DW, Hyman BT, Das S, Ertekin-Taner N, Lagier-Tourenne C. Agra Almeida Quadros AR, et al. Among authors: draper i. Acta Neuropathol. 2024 Jan 4;147(1):9. doi: 10.1007/s00401-023-02655-0. Acta Neuropathol. 2024. PMID: 38175301 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: draper i. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.
Wooten EC, Hebl VB, Wolf MJ, Greytak SR, Orr NM, Draper I, Calvino JE, Kapur NK, Maron MS, Kullo IJ, Ommen SR, Bos JM, Ackerman MJ, Huggins GS. Wooten EC, et al. Among authors: draper i. Circ Cardiovasc Genet. 2013 Feb;6(1):10-8. doi: 10.1161/CIRCGENETICS.112.965277. Epub 2012 Dec 19. Circ Cardiovasc Genet. 2013. PMID: 23255317 Free PMC article.
54 results