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Page 1
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Fogli A, et al. Among authors: kaneski cr. Am J Hum Genet. 2003 Jun;72(6):1544-50. doi: 10.1086/375404. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707859 Free PMC article.
The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O. Fogli A, et al. Among authors: kaneski cr. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673
Insertion of mutant proteolipid protein results in missorting of myelin proteins.
Vaurs-Barriere C, Wong K, Weibel TD, Abu-Asab M, Weiss MD, Kaneski CR, Mixon TH, Bonavita S, Creveaux I, Heiss JD, Tsokos M, Goldin E, Quarles RH, Boespflug-Tanguy O, Schiffmann R. Vaurs-Barriere C, et al. Among authors: kaneski cr. Ann Neurol. 2003 Dec;54(6):769-80. doi: 10.1002/ana.10762. Ann Neurol. 2003. PMID: 14681886 Free PMC article.
Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM, Schiffmann R, Kaneski C, Brady RO, Sorensen SA, Hasholt L. Rosenberg KM, et al. Hum Mutat. 2000 Feb;15(2):207-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C. Hum Mutat. 2000. PMID: 10649504
The cerebral vasculopathy of Fabry disease.
Moore DF, Kaneski CR, Askari H, Schiffmann R. Moore DF, et al. Among authors: kaneski cr. J Neurol Sci. 2007 Jun 15;257(1-2):258-63. doi: 10.1016/j.jns.2007.01.053. Epub 2007 Mar 23. J Neurol Sci. 2007. PMID: 17362993 Review.
53 results