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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: labauge p. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
[Genetic demyelinating diseases].
Labauge P, Boespflug-Tanguy O. Labauge P, et al. Presse Med. 2010 Mar;39(3):363-70. doi: 10.1016/j.lpm.2009.11.011. Epub 2010 Feb 18. Presse Med. 2010. PMID: 20167452 French.
A novel autosomal dominant leukodystrophy with specific MRI pattern.
Corlobé A, Taithe F, Clavelou P, Pierre E, Carra-Dallière C, Ayrignac X, Mouzat K, Lumbroso S, Menjot de Champfleur N, Koenig M, Boespflug-Tanguy O, Labauge P. Corlobé A, et al. Among authors: labauge p. J Neurol. 2015;262(4):988-91. doi: 10.1007/s00415-015-7660-4. Epub 2015 Feb 17. J Neurol. 2015. PMID: 25683759
MRI pattern approach of adult-onset inherited leukoencephalopathies.
Labauge P, Carra-Dalliere C, Menjot de Champfleur N, Ayrignac X, Boespflug-Tanguy O. Labauge P, et al. Neurol Clin Pract. 2014 Aug;4(4):287-295. doi: 10.1212/CPJ.0000000000000047. Neurol Clin Pract. 2014. PMID: 29473566 Free PMC article.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: labauge p. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Genes involved in leukodystrophies: a glance at glial functions.
Boespflug-Tanguy O, Labauge P, Fogli A, Vaurs-Barriere C. Boespflug-Tanguy O, et al. Among authors: labauge p. Curr Neurol Neurosci Rep. 2008 May;8(3):217-29. doi: 10.1007/s11910-008-0034-x. Curr Neurol Neurosci Rep. 2008. PMID: 18541117 Review.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: labauge p. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
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. Among authors: labauge p. 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.
459 results