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Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant.
Delinière A, Haddad C, Herrera-Siklódy C, Hermida A, Pruvot E, Bressieux-Degueldre S, Millat G, Janin A, Hermida JS, Asatryan B, Chevalier P. Delinière A, et al. Among authors: millat g. Circ Genom Precis Med. 2023 Jun;16(3):280-282. doi: 10.1161/CIRCGEN.122.004010. Epub 2023 Apr 3. Circ Genom Precis Med. 2023. PMID: 37009738 No abstract available.
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.
Niemann-Pick type C disease in a 68-year-old patient.
Trendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R. Trendelenburg G, et al. Among authors: millat g. J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. doi: 10.1136/jnnp.2005.086785. J Neurol Neurosurg Psychiatry. 2006. PMID: 16844962 Free PMC article. No abstract available.
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.
Niemann-Pick disease type C.
Vanier MT, Millat G. Vanier MT, et al. Among authors: millat g. Clin Genet. 2003 Oct;64(4):269-81. doi: 10.1034/j.1399-0004.2003.00147.x. Clin Genet. 2003. PMID: 12974729 Review.
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
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier MT. Morisot C, et al. Among authors: millat g. Arch Pediatr. 2005 Apr;12(4):434-7. doi: 10.1016/j.arcped.2005.01.015. Arch Pediatr. 2005. PMID: 15808435 French.
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