Mignot C - Search Results

1

Herpes simplex virus encephalitis in human UNC-93B deficiency.

Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Sénéchal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Héron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL. Casrouge A, et al. Among authors: mignot c. Science. 2006 Oct 13;314(5797):308-12. doi: 10.1126/science.1128346. Epub 2006 Sep 14. Science. 2006. PMID: 16973841

2

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation.

Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB. Roubergue A, et al. Among authors: mignot c. Mov Disord. 2004 Mar;19(3):344-6. doi: 10.1002/mds.10660. Mov Disord. 2004. PMID: 15022193

3

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. Brain Dev. 2006 Jan;28(1):39-48. doi: 10.1016/j.braindev.2005.04.005. Brain Dev. 2006. PMID: 16485335 Review.

4

[Human herpes virus type 6, etiology of an acute encephalitis in childhood: case report].

Afenjar A, Rodriguez D, Rozenberg F, Dorison N, Guët A, Mignot C, Doummar D, Billette de Villemeur T, Ponsot G. Afenjar A, et al. Among authors: mignot c. Arch Pediatr. 2007 May;14(5):472-5. doi: 10.1016/j.arcped.2006.12.020. Epub 2007 Feb 15. Arch Pediatr. 2007. PMID: 17306516 French.

5

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: mignot c. 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

6

Microcephaly: a radiological review.

Tarrant A, Garel C, Germanaud D, de Villemeur TB, Mignot C, Lenoir M, le Pointe HD. Tarrant A, et al. Among authors: mignot c. Pediatr Radiol. 2009 Aug;39(8):772-80; quiz 888-9. doi: 10.1007/s00247-009-1266-x. Epub 2009 May 13. Pediatr Radiol. 2009. PMID: 19437006 Review.

7

Gaucher disease.

Mignot C, Gelot A, De Villemeur TB. Mignot C, et al. Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Handb Clin Neurol. 2013. PMID: 23622393 Review.

8

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

9

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.

Doummar D, Clot F, Vidailhet M, Afenjar A, Durr A, Brice A, Mignot C, Guet A, de Villemeur TB, Rodriguez D. Doummar D, et al. Among authors: mignot c. Mov Disord. 2009 Apr 30;24(6):943-5. doi: 10.1002/mds.22455. Mov Disord. 2009. PMID: 19224593 No abstract available.

10

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.

Bratosin D, Tissier JP, Lapillonne H, Hermine O, de Villemeur TB, Cotoraci C, Montreuil J, Mignot C. Bratosin D, et al. Among authors: mignot c. Cytometry B Clin Cytom. 2011 Jan;80(1):28-37. doi: 10.1002/cyto.b.20539. Cytometry B Clin Cytom. 2011. PMID: 20568298 Free article.

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