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Page 1
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: millat g. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: millat g. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E. Tylki-Szymańska A, et al. Among authors: millat g. Clin Genet. 2007 Dec;72(6):538-42. doi: 10.1111/j.1399-0004.2007.00899.x. Epub 2007 Oct 7. Clin Genet. 2007. PMID: 17919309
Processing of iduronate 2-sulphatase in human fibroblasts.
Froissart R, Millat G, Mathieu M, Bozon D, Maire I. Froissart R, et al. Among authors: millat g. Biochem J. 1995 Jul 15;309 ( Pt 2)(Pt 2):425-30. doi: 10.1042/bj3090425. Biochem J. 1995. PMID: 7626005 Free PMC article.
Structure and function of the NPC2 protein.
Vanier MT, Millat G. Vanier MT, et al. Among authors: millat g. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):14-21. doi: 10.1016/j.bbalip.2004.08.007. Biochim Biophys Acta. 2004. PMID: 15465422 Review.
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: millat g. J Med Genet. 2000 Sep;37(9):707-12. doi: 10.1136/jmg.37.9.707. J Med Genet. 2000. PMID: 11182931 Free PMC article. No abstract available.
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