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167 results

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Glutaric aciduria type I: pathomechanisms of neurodegeneration.
Ullrich K, Flott-Rahmel B, Schluff P, Musshoff U, Das A, Lücke T, Steinfeld R, Christensen E, Jakobs C, Ludolph A, Neu A, Röper R. Ullrich K, et al. Among authors: roper r. J Inherit Metab Dis. 1999 Jun;22(4):392-403. doi: 10.1023/a:1005595921323. J Inherit Metab Dis. 1999. PMID: 10407776
Monkeypox (Mpox) requires continued surveillance, vaccines, therapeutics and mitigating strategies.
Roper RL, Garzino-Demo A, Del Rio C, Bréchot C, Gallo R, Hall W, Esparza J, Reitz M, Schinazi RF, Parrington M, Tartaglia J, Koopmans M, Osorio J, Nitsche A, Huan TB, LeDuc J, Gessain A, Weaver S, Mahalingam S, Abimiku A, Vahlne A, Segales J, Wang L, Isaacs SN, Osterhaus A, Scheuermann RH, McFadden G. Roper RL, et al. Vaccine. 2023 May 11;41(20):3171-3177. doi: 10.1016/j.vaccine.2023.04.010. Epub 2023 Apr 21. Vaccine. 2023. PMID: 37088603 Free PMC article. Review.
Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome.
Scheffer IE, Nabbout R, Lagae L, Devinsky O, Auvin S, Thiele EA, Wirrell EC, Polster T, Specchio N, Pringsheim M, Imai K, Lock MD, Langlois M, Roper RZ, Lothe A, Sullivan J. Scheffer IE, et al. Among authors: roper rz. Epilepsia. 2025 Jun;66(6):1919-1932. doi: 10.1111/epi.18342. Epub 2025 Mar 12. Epilepsia. 2025. PMID: 40072476 Free PMC article. Clinical Trial.
Generating Biomedical Knowledge Graphs from Knowledge Bases, Registries, and Multiomic Data.
Qin G, Narsinh K, Wei Q, Roach JC, Joshi A, Goetz SL, Moxon ST, Brush MH, Xu C, Yao Y, Glen AK, Morris ED, Ralevski A, Roper R, Belhu B, Zhang Y, Shmulevich I, Hadlock J, Glusman G. Qin G, et al. Among authors: roper r. bioRxiv [Preprint]. 2024 Nov 15:2024.11.14.623648. doi: 10.1101/2024.11.14.623648. bioRxiv. 2024. PMID: 39605475 Free PMC article. Preprint.
Skeletal health in DYRK1A syndrome.
Otte ED, Roper RJ. Otte ED, et al. Among authors: roper rj. Front Neurosci. 2024 Sep 6;18:1462893. doi: 10.3389/fnins.2024.1462893. eCollection 2024. Front Neurosci. 2024. PMID: 39308945 Free PMC article. Review.
A genome scale transcriptional regulatory model of the human placenta.
Paquette A, Ahuna K, Hwang YM, Pearl J, Liao H, Shannon P, Kadam L, Lapehn S, Bucher M, Roper R, Funk C, MacDonald J, Bammler T, Baloni P, Brockway H, Mason WA, Bush N, Lewinn KZ, Karr CJ, Stamatoyannopoulos J, Muglia LJ, Jones H, Sadovsky Y, Myatt L, Sathyanarayana S, Price ND. Paquette A, et al. Among authors: roper r. Sci Adv. 2024 Jun 28;10(26):eadf3411. doi: 10.1126/sciadv.adf3411. Epub 2024 Jun 28. Sci Adv. 2024. PMID: 38941464 Free PMC article.
Sex specific emergence of trisomic Dyrk1a-related skeletal phenotypes in the development of a Down syndrome mouse model.
LaCombe JM, Sloan K, Thomas JR, Blackwell MP, Crawford I, Wallace JM, Roper RJ. LaCombe JM, et al. Among authors: roper rj. bioRxiv [Preprint]. 2024 May 26:2024.05.24.595804. doi: 10.1101/2024.05.24.595804. bioRxiv. 2024. Update in: Dis Model Mech. 2024 Sep 1;17(9):dmm050914. doi: 10.1242/dmm.050914. PMID: 38826419 Free PMC article. Updated. Preprint.
167 results