Niel F - Search Results

1

[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: niel f. 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.

2

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

Peter L, Niel F, Catenoix H, Jung J, Demarquay G, Petiot P, Rudigoz RC, Boespflug-Tanguy O, Ryvlin P, Mauguière F. Peter L, et al. Among authors: niel f. Eur J Neurol. 2008 Jan;15(1):94-7. doi: 10.1111/j.1468-1331.2007.01999.x. Epub 2007 Nov 14. Eur J Neurol. 2008. PMID: 18005052

3

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

4

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: niel f. Neurology. 2008 Jun 3;70(23):2226-32. doi: 10.1212/01.wnl.0000313857.54398.0e. Neurology. 2008. PMID: 18519871 Free PMC article.

5

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Damon-Perriere N, Menegon P, Olivier A, Boespflug-Tanguy O, Niel F, Creveaux I, Dousset V, Brochet B, Goizet C. Damon-Perriere N, et al. Among authors: niel f. Clin Neurol Neurosurg. 2008 Dec;110(10):1068-71. doi: 10.1016/j.clineuro.2008.08.003. Epub 2008 Oct 8. Clin Neurol Neurosurg. 2008. PMID: 18845387

6

Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.

Denier C, Orgibet A, Roffi F, Jouvent E, Buhl C, Niel F, Boespflug-Tanguy O, Said G, Ducreux D. Denier C, et al. Among authors: niel f. Neurology. 2007 May 1;68(18):1538-9. doi: 10.1212/01.wnl.0000260701.76868.44. Neurology. 2007. PMID: 17470759 No abstract available.

7

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F. Jansen AC, et al. Among authors: niel f. Epilepsia. 2008 May;49(5):910-3. doi: 10.1111/j.1528-1167.2008.01542.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266750 Free article.

8

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. Bauters M, et al. Among authors: niel f. Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107. Epub 2008 Apr 2. Genome Res. 2008. PMID: 18385275 Free PMC article.

9

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Among authors: niel f. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938

10

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. Tchernitchko D, et al. Among authors: niel f. Hum Mutat. 2003 Oct;22(4):339-40. doi: 10.1002/humu.9182. Hum Mutat. 2003. PMID: 12955725

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