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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 2 |
2024 | 1 |
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Page 1
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Mol Genet Metab. 2022 Mar;135(3):221-229. doi: 10.1016/j.ymgme.2022.01.103. Epub 2022 Feb 1.
Mol Genet Metab. 2022.
PMID: 35144859
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.
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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.
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.
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Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
Han ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ.
Han ST, et al.
J Inherit Metab Dis. 2023 Jul;46(4):687-694. doi: 10.1002/jimd.12596. Epub 2023 Feb 5.
J Inherit Metab Dis. 2023.
PMID: 36700853
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