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Page 1
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Raas-Rothschild A, et al. J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222. J Med Genet. 2004. PMID: 15060128 Free PMC article. No abstract available.
Identification of the gene causing mucolipidosis type IV.
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. Bargal R, et al. Nat Genet. 2000 Sep;26(1):118-23. doi: 10.1038/79095. Nat Genet. 2000. PMID: 10973263
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. Lahat H, et al. Am J Hum Genet. 2001 Dec;69(6):1378-84. doi: 10.1086/324565. Epub 2001 Oct 25. Am J Hum Genet. 2001. PMID: 11704930 Free PMC article.
Personal receptor repertoires: olfaction as a model.
Olender T, Waszak SM, Viavant M, Khen M, Ben-Asher E, Reyes A, Nativ N, Wysocki CJ, Ge D, Lancet D. Olender T, et al. Among authors: ben asher e. BMC Genomics. 2012 Aug 21;13:414. doi: 10.1186/1471-2164-13-414. BMC Genomics. 2012. PMID: 22908908 Free PMC article.
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Oz-Levi D, et al. Among authors: ben asher e. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176824 Free PMC article.
57 results