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Molecular order in mucolipidosis II and III nomenclature.
Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA. Cathey SS, et al. Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. Am J Med Genet A. 2008. PMID: 18203164 No abstract available.
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC).
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. Raas-Rothschild A, et al. J Clin Invest. 2000 Mar;105(5):673-81. doi: 10.1172/JCI5826. J Clin Invest. 2000. PMID: 10712439 Free PMC article.
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125
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
136 results