Fogli A - Search Results

1

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O. Fogli A, et al. Eur J Hum Genet. 2004 Jul;12(7):561-6. doi: 10.1038/sj.ejhg.5201189. Eur J Hum Genet. 2004. PMID: 15054402

2

[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: fogli a. 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.

3

Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.

Vanderver A, Hathout Y, Maletkovic J, Gordon ES, Mintz M, Timmons M, Hoffman EP, Horzinski L, Niel F, Fogli A, Boespflug-Tanguy O, Schiffmann R. Vanderver A, et al. Among authors: fogli a. Neurology. 2008 Jun 3;70(23):2226-32. doi: 10.1212/01.wnl.0000313857.54398.0e. Neurology. 2008. PMID: 18519871 Free PMC article.

4

Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.

Horzinski L, Gonthier C, Rodriguez D, Scherer C, Boespflug-Tanguy O, Fogli A. Horzinski L, et al. Among authors: fogli a. Ann Hum Genet. 2008 May;72(Pt 3):410-5. doi: 10.1111/j.1469-1809.2007.00427.x. Epub 2008 Feb 19. Ann Hum Genet. 2008. PMID: 18294360

5

[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: fogli a. 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.

6

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.

7

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.

Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E. Fogli A, et al. Neurology. 2002 Dec 24;59(12):1966-8. doi: 10.1212/01.wnl.0000041666.76863.47. Neurology. 2002. PMID: 12499492

8

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

9

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Sèze J, Fogli A, Boespflug-Tanguy O. Labauge P, et al. Among authors: fogli a. Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171. Brain. 2009. PMID: 19625339

10

Peptidomics and proteomics studies of transformed lymphocytes from patients mutated for the eukaryotic initiation factor 2B.

Fogli A, Malinverni C, Thadikkaran L, Combes P, Perret F, Crettaz D, Tissot JD, Boespflug-Tanguy O, Stöcklin R, Bulet P. Fogli A, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Aug 7;840(1):20-8. doi: 10.1016/j.jchromb.2006.06.007. Epub 2006 Jul 7. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16824809

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