Leitersdorf E - Search Results

1

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: leitersdorf e. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141

2

Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease.

Meiner V, Meiner Z, Reshef A, Björkhem I, Leitersdorf E. Meiner V, et al. Among authors: leitersdorf e. Neurology. 1994 Feb;44(2):288-90. doi: 10.1212/wnl.44.2.288. Neurology. 1994. PMID: 8309576

3

Cerebrotendinous xanthomatosis.

Leitersdorf E, Meiner V. Leitersdorf E, et al. Curr Opin Lipidol. 1994 Apr;5(2):138-42. doi: 10.1097/00041433-199404000-00010. Curr Opin Lipidol. 1994. PMID: 8044416 Review.

4

Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.

Cahn A, Meiner V, Leitersdorf E, Berkman N. Cahn A, et al. Among authors: leitersdorf e. Isr Med Assoc J. 2004 Mar;6(3):156-9. Isr Med Assoc J. 2004. PMID: 15055271 Free article.

5

Apolipoprotein E genotyping: accurate, simple, high throughput method using ABI Prism SNaPshot Multiplex System.

Ben-Avi L, Durst R, Shpitzen S, Leitersdorf E, Meiner V. Ben-Avi L, et al. Among authors: leitersdorf e. J Alzheimers Dis. 2004 Oct;6(5):497-501. doi: 10.3233/jad-2004-6506. J Alzheimers Dis. 2004. PMID: 15505371 Clinical Trial.

6

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

Reshef A, Meiner V, Berginer VM, Leitersdorf E. Reshef A, et al. Among authors: leitersdorf e. J Lipid Res. 1994 Mar;35(3):478-83. J Lipid Res. 1994. PMID: 8014582 Free article.

7

Cholesteryl ester transfer protein (CETP) genetic variation and early onset of non-fatal myocardial infarction.

Meiner V, Friedlander Y, Milo H, Sharon N, Ben-Avi L, Shpitzen S, Leitersdorf E, Siscovick DS, Schwartz SM. Meiner V, et al. Among authors: leitersdorf e. Ann Hum Genet. 2008 Nov;72(Pt 6):732-41. doi: 10.1111/j.1469-1809.2008.00464.x. Epub 2008 Jul 15. Ann Hum Genet. 2008. PMID: 18637884 Free PMC article.

8

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: leitersdorf e. Atherosclerosis. 2017 Feb;257:55-63. doi: 10.1016/j.atherosclerosis.2016.12.021. Epub 2016 Dec 18. Atherosclerosis. 2017. PMID: 28104544 Free article.

9

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

Meiner V, Shpitzen S, Mandel H, Klar A, Ben-Neriah Z, Zlotogora J, Sagi M, Lossos A, Bargal R, Sury V, Carmi R, Leitersdorf E, Zeigler M. Meiner V, et al. Among authors: leitersdorf e. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687 Free article.

10

Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.

Reshef A, Meiner V, Dann EJ, Granat M, Leitersdorf E. Reshef A, et al. Among authors: leitersdorf e. Hum Genet. 1992 May;89(2):237-9. doi: 10.1007/BF00217130. Hum Genet. 1992. PMID: 1350266

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