Fogli A - Search Results

1

Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.

Fogli A, Giglio S, Arrigo G, Lo Nigro C, Zollo M, Viggiano L, Rocchi M, Archidiacono N, Zuffardi O, Carrozzo R. Fogli A, et al. Cytogenet Cell Genet. 1999;86(3-4):225-32. doi: 10.1159/000015344. Cytogenet Cell Genet. 1999. PMID: 10575211

2

The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively.

Moro F, Arrigo G, Fogli A, Bernard L, Carrozzo R. Moro F, et al. Among authors: fogli a. Genomics. 1998 Jul 1;51(1):157-9. doi: 10.1006/geno.1998.5322. Genomics. 1998. PMID: 9693049 No abstract available.

3

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.

Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Fogli A, et al. Ann Neurol. 1999 Feb;45(2):154-61. Ann Neurol. 1999. PMID: 9989616

4

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

5

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R. Fogli A, et al. Ann Neurol. 2002 Oct;52(4):506-10. doi: 10.1002/ana.10339. Ann Neurol. 2002. PMID: 12325082

6

Dominant form of vanishing white matter-like leukoencephalopathy.

Labauge P, Fogli A, Castelnovo G, Le Bayon A, Horzinski L, Nicoli F, Cozzone P, Pagès M, Briere C, Marty-Double C, Delhaume O, Gelot A, Boespflug-Tanguy O, Rodriguez D. Labauge P, et al. Among authors: fogli a. Ann Neurol. 2005 Oct;58(4):634-9. doi: 10.1002/ana.20573. Ann Neurol. 2005. PMID: 16047349

7

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: fogli a. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.

8

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

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

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.

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