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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD. Hopkins PN, et al. Among authors: bourbon m. Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi: 10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15. Circ Cardiovasc Genet. 2015. PMID: 26374825 Free PMC article. Clinical Trial.
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R, Zimon M, Alves AC, Pepperkok R, Bourbon M. Graça R, et al. Among authors: bourbon m. JACC Basic Transl Sci. 2023 Jun 28;8(8):1010-1021. doi: 10.1016/j.jacbts.2023.03.013. eCollection 2023 Aug. JACC Basic Transl Sci. 2023. PMID: 37719435 Free PMC article.
Characterization of the first PCSK9 gain of function homozygote.
Alves AC, Etxebarria A, Medeiros AM, Benito-Vicente A, Thedrez A, Passard M, Croyal M, Martin C, Lambert G, Bourbon M. Alves AC, et al. Among authors: bourbon m. J Am Coll Cardiol. 2015 Nov 10;66(19):2152-2154. doi: 10.1016/j.jacc.2015.08.871. J Am Coll Cardiol. 2015. PMID: 26541928 Free article. No abstract available.
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation. Sturm AC, et al. Among authors: bourbon m. J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044. J Am Coll Cardiol. 2018. PMID: 30071997 Free article. Review.
102 results