Boespflug-Tanguy O - Search Results

1

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.

Mignot C, Desguerre I, Burglen L, Hertz-Pannier L, Renaldo F, Gadisseux JF, Gallet S, Pham-Dinh D, Boespflug-Tanguy O, Rodriguez D. Mignot C, et al. Brain Dev. 2009 Mar;31(3):244-7. doi: 10.1016/j.braindev.2008.05.005. Epub 2008 Jun 26. Brain Dev. 2009. PMID: 18584981

2

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Brenner M, et al. Nat Genet. 2001 Jan;27(1):117-20. doi: 10.1038/83679. Nat Genet. 2001. PMID: 11138011

3

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.

4

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.

5

[eIF2B and Cree Indian leukodystrophies].

Fogli A, Rodriguez D, Eymard-Pierre E, Boespflug-Tanguy O. Fogli A, et al. Med Sci (Paris). 2003 Mar;19(3):283-4. doi: 10.1051/medsci/2003193283. Med Sci (Paris). 2003. PMID: 12836410 Free article. French. No abstract available.

6

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. 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.

7

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern.

Tachdjian G, Aboura A, Benkhalifa M, Creveaux I, Foix-Hélias L, Gadisseux JF, Boespflug-Tanguy O, Mohammed M, Labrune P. Tachdjian G, et al. Am J Med Genet A. 2004 Dec 15;131(3):273-80. doi: 10.1002/ajmg.a.30359. Am J Med Genet A. 2004. PMID: 15526291

8

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. Ann Neurol. 2005 Oct;58(4):634-9. doi: 10.1002/ana.20573. Ann Neurol. 2005. PMID: 16047349

9

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765

10

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

Mignot C, Delarasse C, Escaich S, Della Gaspera B, Noé E, Colucci-Guyon E, Babinet C, Pekny M, Vicart P, Boespflug-Tanguy O, Dautigny A, Rodriguez D, Pham-Dinh D. Mignot C, et al. Exp Cell Res. 2007 Aug 1;313(13):2766-79. doi: 10.1016/j.yexcr.2007.04.035. Epub 2007 May 24. Exp Cell Res. 2007. PMID: 17604020

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