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Page 1
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis.
Allende ML, Lee YT, Byrnes C, Li C, Tuymetova G, Bakir JY, Nicoli ER, James VK, Brodbelt JS, Tifft CJ, Proia RL. Allende ML, et al. Among authors: nicoli er. J Lipid Res. 2023 Dec;64(12):100463. doi: 10.1016/j.jlr.2023.100463. Epub 2023 Oct 21. J Lipid Res. 2023. PMID: 37871851 Free PMC article.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Nicoli ER, Huebecker M, Han ST, Garcia K, Munasinghe J, Lizak M, Latour Y, Yoon R, Glase B, Tyrlik M, Peiravi M, Springer D, Baker EH, Priestman D, Sidhu R, Kell P, Jiang X, Kolstad J, Kuhn AL, Shazeeb MS, Acosta MT, Proia RL, Platt FM, Tifft CJ. Nicoli ER, et al. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan 13. Mol Genet Metab. 2023. PMID: 36709532 Free PMC article.
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.
Kell P, Sidhu R, Qian M, Mishra S, Nicoli ER, D'Souza P, Tifft CJ, Gross AL, Gray-Edwards HL, Martin DR, Sena-Esteves M, Dietzen DJ, Singh M, Luo J, Schaffer JE, Ory DS, Jiang X. Kell P, et al. Among authors: nicoli er. EBioMedicine. 2023 Jun;92:104627. doi: 10.1016/j.ebiom.2023.104627. Epub 2023 May 31. EBioMedicine. 2023. PMID: 37267847 Free PMC article.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston J, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan C, Myles J, Nicoli ER, Rothermel CE, Algarin YM, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier D, Brooks B, Baker E, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: nicoli er. medRxiv [Preprint]. 2024 Jan 4:2024.01.04.24300778. doi: 10.1101/2024.01.04.24300778. medRxiv. 2024. PMID: 38313286 Free PMC article. Updated. Preprint.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: nicoli er. Genet Med. 2024 Apr 16:101144. doi: 10.1016/j.gim.2024.101144. Online ahead of print. Genet Med. 2024. PMID: 38641994
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV. Kuptanon C, et al. Among authors: nicoli er. Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023. Front Genet. 2023. PMID: 36968585 Free PMC article.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. Among authors: nicoli er. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Review.
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.
Chen OCW, Siebel S, Colaco A, Nicoli ER, Platt N, Shepherd D, Newman S, Armitage AE, Farhat NY, Seligmann G, Smith C, Smith DA, Abdul-Sada A, Jeyakumar M, Drakesmith H, Porter FD, Platt FM. Chen OCW, et al. Among authors: nicoli er. Wellcome Open Res. 2023 Apr 3;7:267. doi: 10.12688/wellcomeopenres.17261.2. eCollection 2022. Wellcome Open Res. 2023. PMID: 37065726 Free PMC article.
28 results