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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: torres rj. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout.
Sumpter NA, Takei R, Cadzow M, Topless RKG, Phipps-Green AJ, Murphy R, de Zoysa J, Watson H, Qasim M, Lupi AS, Abhishek A, Andrés M, Crișan TO, Doherty M, Jacobsson L, Janssen M, Jansen TL, Joosten LAB, Kapetanovic M, Lioté F, Matsuo H, McCarthy GM, Perez-Ruiz F, Riches P, Richette P, Roddy E, Stiburkova B, So A, Tausche AK, Torres RJ, Uhlig T, Major TJ, Stamp LK, Dalbeth N, Choi HK, Vazquez AI, Leask MP, Reynolds RJ, Merriman TR. Sumpter NA, et al. Among authors: torres rj. Arthritis Rheumatol. 2023 May;75(5):816-825. doi: 10.1002/art.42393. Epub 2023 Mar 25. Arthritis Rheumatol. 2023. PMID: 36281732
Effect of Direct Transportation to Thrombectomy-Capable Center vs Local Stroke Center on Neurological Outcomes in Patients With Suspected Large-Vessel Occlusion Stroke in Nonurban Areas: The RACECAT Randomized Clinical Trial.
Pérez de la Ossa N, Abilleira S, Jovin TG, García-Tornel Á, Jimenez X, Urra X, Cardona P, Cocho D, Purroy F, Serena J, San Román Manzanera L, Vivanco-Hidalgo RM, Salvat-Plana M, Chamorro A, Gallofré M, Molina CA, Cobo E, Davalos A, Ribo M; RACECAT Trial Investigators. Pérez de la Ossa N, et al. JAMA. 2022 May 10;327(18):1782-1794. doi: 10.1001/jama.2022.4404. JAMA. 2022. PMID: 35510397 Free PMC article. Clinical Trial.
129 results