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Chediak-Higashi syndrome: a review of the past, present, and future.
Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, Introne WJ. Sharma P, et al. Among authors: serra vinardell j. Drug Discov Today Dis Models. 2020 Summer;31:31-36. doi: 10.1016/j.ddmod.2019.10.008. Epub 2019 Dec 9. Drug Discov Today Dis Models. 2020. PMID: 33424983 Free PMC article.
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Tayebi N, Parisiadou L, Berhe B, Gonzalez AN, Serra-Vinardell J, Tamargo RJ, Maniwang E, Sorrentino Z, Fujiwara H, Grey RJ, Hassan S, Blech-Hermoni YN, Chen C, McGlinchey R, Makariou-Pikis C, Brooks M, Ginns EI, Ory DS, Giasson BI, Sidransky E. Tayebi N, et al. Mol Genet Metab. 2017 Dec;122(4):198-208. doi: 10.1016/j.ymgme.2017.11.001. Epub 2017 Nov 21. Mol Genet Metab. 2017. PMID: 29173981 Free PMC article.
Bone development and remodeling in metabolic disorders.
Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Serra-Vinardell J, et al. J Inherit Metab Dis. 2020 Jan;43(1):133-144. doi: 10.1002/jimd.12097. Epub 2019 Apr 29. J Inherit Metab Dis. 2020. PMID: 30942483 Review.
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Martin K, Navid F, Iben J, Wassif CA, Cawley NX, Porter FD. Cougnoux A, et al. Among authors: serra vinardell j. Int J Mol Sci. 2020 Jul 28;21(15):5368. doi: 10.3390/ijms21155368. Int J Mol Sci. 2020. PMID: 32731618 Free PMC article.
Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1.
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Wassif CA, Cawley NX, Porter FD. Cougnoux A, et al. Among authors: serra vinardell j. Mol Genet Metab. 2020 Nov;131(3):364-366. doi: 10.1016/j.ymgme.2020.10.009. Epub 2020 Oct 18. Mol Genet Metab. 2020. PMID: 33129690 Free PMC article.
20 results