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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: serra vinardell j. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Review.
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.
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.
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.
20 results