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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M. Gustavsson EK, et al. Among authors: sethi s. Sci Adv. 2024 Jun 28;10(26):eadk1296. doi: 10.1126/sciadv.adk1296. Epub 2024 Jun 26. Sci Adv. 2024. PMID: 38924406 Free PMC article.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL; Genomics England Research Consortium; Wood N, Hardy JA, Smedley D, Houlden H, Botía J, Ryten M. Chen Z, et al. Among authors: sethi s. Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009. Brain. 2023. PMID: 36624280 Free PMC article.
Clinicopathologic, Proteomic and Outcome Characteristics of Renal Apolipoprotein C-II Amyloidosis: A Case Series.
Nasr SH, Dasari S, Valeri AM, Theis JD, Moyer A, Buglioni A, Stokes MB, Hasadsri L, Vrana JA, Said SM, Kudose S, Kambham N, Bissonnette ML, Bu L, Gupta R, Suvannasankha A, Martin S, Zeng X, Sothinathan R, Jadoon A, Kebede T, Manickaratnam S, Rosenstock JL, Markowitz GS, Sethi S, Leung N, McPhail ED. Nasr SH, et al. Among authors: sethi s. Am J Kidney Dis. 2024 Nov 13:S0272-6386(24)01054-0. doi: 10.1053/j.ajkd.2024.09.007. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39547356
Qigong and Tai Chi for ME/CFS: A Systematic Review of Randomized Controlled Trials.
Markwart M, Felsenstein D, Mehta DH, Sethi S, Tsuchiyose E, Lydson M, Yeh GY, Hall DL. Markwart M, et al. Among authors: sethi s. Glob Adv Integr Med Health. 2024 Nov 7;13:27536130241275607. doi: 10.1177/27536130241275607. eCollection 2024 Jan-Dec. Glob Adv Integr Med Health. 2024. PMID: 39524182 Free PMC article.
De Novo Exostosin-Associated Membranous Nephropathy in Kidney Transplant.
Lafaut EP, Fragoso P, Haas M, Sethi S. Lafaut EP, et al. Among authors: sethi s. Kidney Int Rep. 2024 Sep 20;9(11):3349-3350. doi: 10.1016/j.ekir.2024.09.009. eCollection 2024 Nov. Kidney Int Rep. 2024. PMID: 39534207 Free PMC article. No abstract available.
2,222 results