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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. 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. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673
The large spectrum of eIF2B-related diseases.
Fogli A, Boespflug-Tanguy O. Fogli A, et al. Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. doi: 10.1042/BST20060022. Biochem Soc Trans. 2006. PMID: 16246171 Review.
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. Ann Neurol. 2003 Dec;54(6):769-80. doi: 10.1002/ana.10762. Ann Neurol. 2003. PMID: 14681886 Free PMC article.
208 results