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CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. Laqtom NN, et al. Among authors: porter fd. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. Nature. 2022. PMID: 36131016 Free PMC article.
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
Dang Do AN, Baker EH, Warren KE, Bianconi SE, Porter FD. Dang Do AN, et al. Among authors: porter fd. Am J Med Genet A. 2018 Feb;176(2):386-390. doi: 10.1002/ajmg.a.38563. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226552 Free PMC article.
Oxidative phosphorylation in creatine transporter deficiency.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J. Li S, et al. Among authors: porter fd. NMR Biomed. 2021 Jan;34(1):e4419. doi: 10.1002/nbm.4419. Epub 2020 Sep 29. NMR Biomed. 2021. PMID: 32990357 Free PMC article.
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
Abdennadher M, Inati S, Soldatos A, Norato G, Baker EH, Thurm A, Bartolini L, Masvekar R, Theodore W, Bielekova B, Porter FD, Dang Do AN. Abdennadher M, et al. Among authors: porter fd. J Inherit Metab Dis. 2021 Jul;44(4):1013-1020. doi: 10.1002/jimd.12366. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33550636 Free PMC article.
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Dang Do AN, Thurm AE, Farmer CA, Soldatos AG, Chlebowski CE, O'Reilly JK, Porter FD. Dang Do AN, et al. Among authors: porter fd. Am J Med Genet A. 2022 Apr;188(4):1056-1064. doi: 10.1002/ajmg.a.62607. Epub 2021 Dec 16. Am J Med Genet A. 2022. PMID: 34913584 Free PMC article.
Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
Solomon BI, Muñoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Solomon BI, et al. Among authors: porter fd. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w. Orphanet J Rare Dis. 2022. PMID: 36064725 Free PMC article.
217 results