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Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: de villemeur tb. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Type 2 Gaucher disease: 15 new cases and review of the literature.
Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group. Mignot C, et al. Among authors: de villemeur tb. Brain Dev. 2006 Jan;28(1):39-48. doi: 10.1016/j.braindev.2005.04.005. Brain Dev. 2006. PMID: 16485335 Review.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: de villemeur tb. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
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: de villemeur tb. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: de villemeur tb. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
Galliani E, Burglen L, Kadlub N, Just W, Sznajer Y, de Villemeur TB, Soupre V, Picard A, Vazquez MP. Galliani E, et al. Among authors: de villemeur tb. Cleft Palate Craniofac J. 2012 May;49(3):357-64. doi: 10.1597/10-203. Epub 2011 May 3. Cleft Palate Craniofac J. 2012. PMID: 21539471
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB. Mignot C, et al. Among authors: de villemeur tb. Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Handb Clin Neurol. 2013. PMID: 23622393 Review.
[Management of acute visual loss in children].
Doummar D, Roussat B, Pelosse B, Le Pointe HD, Iba-Zizen M, Roubergue A, Rodriguez D, de Villemeur TB. Doummar D, et al. Among authors: de villemeur tb. Arch Pediatr. 2004 Nov;11(11):1384-8. doi: 10.1016/j.arcped.2004.04.005. Arch Pediatr. 2004. PMID: 15519841 Review. French.
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.
Roubergue A, Apartis E, Mesnage V, Doummar D, Trocello JM, Roze E, Taieb G, De Villemeur TB, Vuillaumier-Barrot S, Vidailhet M, Levy R. Roubergue A, et al. Among authors: de villemeur tb. J Inherit Metab Dis. 2011 Apr;34(2):483-8. doi: 10.1007/s10545-010-9264-6. Epub 2011 Jan 13. J Inherit Metab Dis. 2011. PMID: 21229316
51 results