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Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA. Akman HO, et al. Among authors: shpitzen s. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R, Ibe UK, Shpitzen S, Schurr D, Eliav O, Futema M, Whittall R, Szalat A, Meiner V, Knobler H, Gavish D, Henkin Y, Ellis A, Rubinstein A, Harats D, Bitzur R, Hershkovitz B, Humphries SE, Leitersdorf E. Durst R, et al. Among authors: shpitzen s. Atherosclerosis. 2017 Feb;257:55-63. doi: 10.1016/j.atherosclerosis.2016.12.021. Epub 2016 Dec 18. Atherosclerosis. 2017. PMID: 28104544 Free article.
In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.
Winther M, Shpitzen S, Yaacov O, Landau J, Oren L, Foroozan-Rosenberg L, Lev Cohain N, Schurr D, Meiner V, Szalat A, Carmi S, Hayden MR, Leitersdorf E, Durst R. Winther M, et al. Among authors: shpitzen s. J Lipid Res. 2019 Oct;60(10):1733-1740. doi: 10.1194/jlr.M092049. Epub 2019 Aug 6. J Lipid Res. 2019. PMID: 31387896 Free PMC article.
CETP genotype and changes in lipid levels in response to weight-loss diet intervention in the POUNDS LOST and DIRECT randomized trials.
Qi Q, Durst R, Schwarzfuchs D, Leitersdorf E, Shpitzen S, Li Y, Wu H, Champagne CM, Hu FB, Stampfer MJ, Bray GA, Sacks FM, Shai I, Qi L. Qi Q, et al. Among authors: shpitzen s. J Lipid Res. 2015 Mar;56(3):713-721. doi: 10.1194/jlr.P055715. Epub 2014 Dec 29. J Lipid Res. 2015. PMID: 25548261 Free PMC article. Clinical Trial.
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. Tessler I, et al. Among authors: shpitzen s. JAMA Cardiol. 2023 Aug 1;8(8):721-731. doi: 10.1001/jamacardio.2023.1469. JAMA Cardiol. 2023. PMID: 37405741 Free PMC article.
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