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861 results

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A yeast functional screen predicts new candidate ALS disease genes.
Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD. Couthouis J, et al. Among authors: ramos d. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):20881-90. doi: 10.1073/pnas.1109434108. Epub 2011 Nov 7. Proc Natl Acad Sci U S A. 2011. PMID: 22065782 Free PMC article.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: ramos d. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Pantazis CB, Yang A, Lara E, McDonough JA, Blauwendraat C, Peng L, Oguro H, Kanaujiya J, Zou J, Sebesta D, Pratt G, Cross E, Blockwick J, Buxton P, Kinner-Bibeau L, Medura C, Tompkins C, Hughes S, Santiana M, Faghri F, Nalls MA, Vitale D, Ballard S, Qi YA, Ramos DM, Anderson KM, Stadler J, Narayan P, Papademetriou J, Reilly L, Nelson MP, Aggarwal S, Rosen LU, Kirwan P, Pisupati V, Coon SL, Scholz SW, Priebe T, Öttl M, Dong J, Meijer M, Janssen LJM, Lourenco VS, van der Kant R, Crusius D, Paquet D, Raulin AC, Bu G, Held A, Wainger BJ, Gabriele RMC, Casey JM, Wray S, Abu-Bonsrah D, Parish CL, Beccari MS, Cleveland DW, Li E, Rose IVL, Kampmann M, Calatayud Aristoy C, Verstreken P, Heinrich L, Chen MY, Schüle B, Dou D, Holzbaur ELF, Zanellati MC, Basundra R, Deshmukh M, Cohen S, Khanna R, Raman M, Nevin ZS, Matia M, Van Lent J, Timmerman V, Conklin BR, Johnson Chase K, Zhang K, Funes S, Bosco DA, Erlebach L, Welzer M, Kronenberg-Versteeg D, Lyu G, Arenas E, Coccia E, Sarrafha L, Ahfeldt T, Marioni JC, Skarnes WC, Cookson MR, Ward ME, Merkle FT. Pantazis CB, et al. Among authors: ramos dm. Cell Stem Cell. 2022 Dec 1;29(12):1685-1702.e22. doi: 10.1016/j.stem.2022.11.004. Cell Stem Cell. 2022. PMID: 36459969 Free PMC article.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.
Kong L, Valdivia DO, Simon CM, Hassinan CW, Delestrée N, Ramos DM, Park JH, Pilato CM, Xu X, Crowder M, Grzyb CC, King ZA, Petrillo M, Swoboda KJ, Davis C, Lutz CM, Stephan AH, Zhao X, Weetall M, Naryshkin NA, Crawford TO, Mentis GZ, Sumner CJ. Kong L, et al. Sci Transl Med. 2021 Jan 27;13(578):eabb6871. doi: 10.1126/scitranslmed.abb6871. Sci Transl Med. 2021. PMID: 33504650 Free PMC article.
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Ramos DM, et al. Among authors: d ydewalle c. J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120. J Clin Invest. 2019. PMID: 31589162 Free PMC article. Clinical Trial.
861 results