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Year Number of Results
2014 1
2015 2
2016 4
2017 4
2018 1
2019 2
2020 2
2021 2
2022 3
2023 6
2024 2

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27 results

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Page 1
GM1 Gangliosidosis-A Mini-Review.
Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. Nicoli ER, et al. Front Genet. 2021 Sep 3;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021. Front Genet. 2021. PMID: 34539759 Free PMC article. Review.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA. Montano C, et al. Among authors: nicoli er. J Inherit Metab Dis. 2022 Sep;45(5):907-918. doi: 10.1002/jimd.12506. Epub 2022 May 16. J Inherit Metab Dis. 2022. PMID: 35490291 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.
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.
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.
IDH1 mutations induce organelle defects via dysregulated phospholipids.
Lita A, Pliss A, Kuzmin A, Yamasaki T, Zhang L, Dowdy T, Burks C, de Val N, Celiku O, Ruiz-Rodado V, Nicoli ER, Kruhlak M, Andresson T, Das S, Yang C, Schmitt R, Herold-Mende C, Gilbert MR, Prasad PN, Larion M. Lita A, et al. Among authors: nicoli er. Nat Commun. 2021 Jan 27;12(1):614. doi: 10.1038/s41467-020-20752-6. Nat Commun. 2021. PMID: 33504762 Free PMC article.
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.
27 results