Verny C - Search Results

1

Estimation of the inbreeding coefficient through use of genomic data.

Leutenegger AL, Prum B, Génin E, Verny C, Lemainque A, Clerget-Darpoux F, Thompson EA. Leutenegger AL, et al. Among authors: verny c. Am J Hum Genet. 2003 Sep;73(3):516-23. doi: 10.1086/378207. Epub 2003 Jul 29. Am J Hum Genet. 2003. PMID: 12900793 Free PMC article.

2

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Verny C, Ravisé N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E. Verny C, et al. Neurology. 2004 Oct 26;63(8):1527-9. doi: 10.1212/01.wnl.0000142082.65144.ee. Neurology. 2004. PMID: 15505184

3

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: verny c. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

4

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).

Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P. Cassereau J, et al. Among authors: verny c. Neurogenetics. 2009 Apr;10(2):145-50. doi: 10.1007/s10048-008-0166-9. Epub 2008 Dec 17. Neurogenetics. 2009. PMID: 19089472

5

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Among authors: verny c. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.

6

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P, Chevrollier A. Guillet V, et al. Among authors: verny c. Neurogenetics. 2010 Feb;11(1):127-33. doi: 10.1007/s10048-009-0207-z. Epub 2009 Jul 18. Neurogenetics. 2010. PMID: 19618221

7

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Cassereau J, Chevrollier A, Bonneau D, Verny C, Procaccio V, Reynier P, Ferré M. Cassereau J, et al. Among authors: verny c. Orphanet J Rare Dis. 2011 Dec 26;6:87. doi: 10.1186/1750-1172-6-87. Orphanet J Rare Dis. 2011. PMID: 22200116 Free PMC article.

8

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E. Azzedine H, et al. Among authors: verny c. Neurology. 2006 Aug 22;67(4):602-6. doi: 10.1212/01.wnl.0000230225.19797.93. Neurology. 2006. PMID: 16924012

9

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, Nicolas G, Dubas F, Amati-Bonneau P, Reynier P, Bonneau D, Procaccio V. Cassereau J, et al. Among authors: verny c. Exp Neurol. 2011 Jan;227(1):31-41. doi: 10.1016/j.expneurol.2010.09.006. Epub 2010 Sep 21. Exp Neurol. 2011. PMID: 20849849 Review.

10

Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.

Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P. Loiseau D, et al. Among authors: verny c. Ann Neurol. 2007 Apr;61(4):315-23. doi: 10.1002/ana.21086. Ann Neurol. 2007. PMID: 17444508

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