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Page 1
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D. Passemard S, et al. Among authors: rodriguez d. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O. Labauge P, et al. Among authors: rodriguez d. Rev Neurol (Paris). 2007 Sep;163(8-9):793-9. doi: 10.1016/s0035-3787(07)91461-7. Rev Neurol (Paris). 2007. PMID: 17878805 Review. French.
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: rodriguez d. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673
[Fetal neurology: conditions of diagnostic uncertainty].
Moutard ML, Gélot A, Rodriguez D, Guët A, Mignot C, Ponsot G, Billette de Villemeur T. Moutard ML, et al. Among authors: rodriguez d. Arch Pediatr. 2006 Jun;13(6):825-7. doi: 10.1016/j.arcped.2006.03.128. Epub 2006 May 12. Arch Pediatr. 2006. PMID: 16698255 French. No abstract available.
[Management of acute visual loss in children].
Doummar D, Roussat B, Pelosse B, Le Pointe HD, Iba-Zizen M, Roubergue A, Rodriguez D, de Villemeur TB. Doummar D, et al. Among authors: rodriguez d. Arch Pediatr. 2004 Nov;11(11):1384-8. doi: 10.1016/j.arcped.2004.04.005. Arch Pediatr. 2004. PMID: 15519841 Review. French.
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. Henneke M, et al. Among authors: rodriguez d. Neurology. 2008 Mar 4;70(10):748-54. doi: 10.1212/01.wnl.0000284828.84464.35. Epub 2007 Dec 19. Neurology. 2008. PMID: 18094336
Alexander disease: putative mechanisms of an astrocytic encephalopathy.
Mignot C, Boespflug-Tanguy O, Gelot A, Dautigny A, Pham-Dinh D, Rodriguez D. Mignot C, et al. Among authors: rodriguez d. Cell Mol Life Sci. 2004 Feb;61(3):369-85. doi: 10.1007/s00018-003-3143-3. Cell Mol Life Sci. 2004. PMID: 14770299 Free PMC article. Review.
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
Carra-Dalliere C, Horzinski L, Ayrignac X, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Sedel F, Guennoc AM, Sartori E, Laplaud D, Antoine JC, Fogli A, Boespflug-Tanguy O, Labauge P. Carra-Dalliere C, et al. Among authors: rodriguez d. Rev Neurol (Paris). 2011 Nov;167(11):802-11. doi: 10.1016/j.neurol.2011.03.008. Epub 2011 Jun 14. Rev Neurol (Paris). 2011. PMID: 21676421 French.
2,310 results