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Current knowledge of SLC6A1-related neurodevelopmental disorders.
Goodspeed K, Pérez-Palma E, Iqbal S, Cooper D, Scimemi A, Johannesen KM, Stefanski A, Demarest S, Helbig KL, Kang J, Shaffo FC, Prentice B, Brownstein CA, Lim B, Helbig I, De Los Reyes E, McKnight D, Crunelli V, Campbell AJ, Møller RS, Freed A, Lal D. Goodspeed K, et al. Among authors: stefanski a. Brain Commun. 2020 Oct 13;2(2):fcaa170. doi: 10.1093/braincomms/fcaa170. eCollection 2020. Brain Commun. 2020. PMID: 33241211 Free PMC article. Review.
Incidence and prevalence of major epilepsy-associated brain lesions.
López-Rivera JA, Smuk V, Leu C, Nasr G, Vegh D, Stefanski A, Pérez-Palma E, Busch R, Jehi L, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Among authors: stefanski a. Epilepsy Behav Rep. 2022 Feb 11;18:100527. doi: 10.1016/j.ebr.2022.100527. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35243289 Free PMC article.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D. Macnee M, et al. Among authors: stefanski a. Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290. Bioinformatics. 2023. PMID: 37104749 Free PMC article.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Recruitment of plasma cells from IL-21-dependent and IL-21-independent immune reactions to the bone marrow.
Ferreira-Gomes M, Chen Y, Durek P, Rincon-Arevalo H, Heinrich F, Bauer L, Szelinski F, Guerra GM, Stefanski AL, Niedobitek A, Wiedemann A, Bondareva M, Ritter J, Lehmann K, Hardt S, Hipfl C, Hein S, Hildt E, Matz M, Mei HE, Cheng Q, Dang VD, Witkowski M, Lino AC, Kruglov A, Melchers F, Perka C, Schrezenmeier EV, Hutloff A, Radbruch A, Dörner T, Mashreghi MF. Ferreira-Gomes M, et al. Among authors: stefanski al. Nat Commun. 2024 May 17;15(1):4182. doi: 10.1038/s41467-024-48570-0. Nat Commun. 2024. PMID: 38755157 Free PMC article.
mTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism.
Levy T, Voeltzke K, Hruby L, Alasad K, Bas Z, Snaebjörnsson M, Marciano R, Scharov K, Planque M, Vriens K, Christen S, Funk CM, Hassiepen C, Kahler A, Heider B, Picard D, Lim JKM, Stefanski A, Bendrin K, Vargas-Toscano A, Kahlert UD, Stühler K, Remke M, Elkabets M, Grünewald TGP, Reichert AS, Fendt SM, Schulze A, Reifenberger G, Rotblat B, Leprivier G. Levy T, et al. Among authors: stefanski a. Nat Commun. 2024 May 14;15(1):4083. doi: 10.1038/s41467-024-48386-y. Nat Commun. 2024. PMID: 38744825 Free PMC article.
An open source knowledge graph ecosystem for the life sciences.
Callahan TJ, Tripodi IJ, Stefanski AL, Cappelletti L, Taneja SB, Wyrwa JM, Casiraghi E, Matentzoglu NA, Reese J, Silverstein JC, Hoyt CT, Boyce RD, Malec SA, Unni DR, Joachimiak MP, Robinson PN, Mungall CJ, Cavalleri E, Fontana T, Valentini G, Mesiti M, Gillenwater LA, Santangelo B, Vasilevsky NA, Hoehndorf R, Bennett TD, Ryan PB, Hripcsak G, Kahn MG, Bada M, Baumgartner WA Jr, Hunter LE. Callahan TJ, et al. Among authors: stefanski al. Sci Data. 2024 Apr 11;11(1):363. doi: 10.1038/s41597-024-03171-w. Sci Data. 2024. PMID: 38605048 Free PMC article.
182 results