Bonnet C - Search Results

1

Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E. Kurtenbach A, et al. Among authors: bonnet c. Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30. Curr Eye Res. 2018. PMID: 30012035

2

mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein.

Kaltimbacher V, Bonnet C, Lecoeuvre G, Forster V, Sahel JA, Corral-Debrinski M. Kaltimbacher V, et al. Among authors: bonnet c. RNA. 2006 Jul;12(7):1408-17. doi: 10.1261/rna.18206. Epub 2006 Jun 2. RNA. 2006. PMID: 16751614 Free PMC article.

3

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.

Bonnet C, Augustin S, Ellouze S, Bénit P, Bouaita A, Rustin P, Sahel JA, Corral-Debrinski M. Bonnet C, et al. Biochim Biophys Acta. 2008 Oct;1783(10):1707-17. doi: 10.1016/j.bbamcr.2008.04.018. Epub 2008 May 6. Biochim Biophys Acta. 2008. PMID: 18513491 Free article.

4

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.

Ellouze S, Augustin S, Bouaita A, Bonnet C, Simonutti M, Forster V, Picaud S, Sahel JA, Corral-Debrinski M. Ellouze S, et al. Among authors: bonnet c. Am J Hum Genet. 2008 Sep;83(3):373-87. doi: 10.1016/j.ajhg.2008.08.013. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771762 Free PMC article.

5

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F. Bonnet C, et al. Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21. Orphanet J Rare Dis. 2011. PMID: 21569298 Free PMC article.

6

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

Bonnet C, El-Amraoui A. Bonnet C, et al. Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2. Curr Opin Neurol. 2012. PMID: 22185901 Review.

7

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Delmaghani S, et al. Among authors: bonnet c. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678063

8

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

Fakin A, Jarc-Vidmar M, Glavač D, Bonnet C, Petit C, Hawlina M. Fakin A, et al. Among authors: bonnet c. Vision Res. 2012 Dec 15;75:60-70. doi: 10.1016/j.visres.2012.08.017. Epub 2012 Sep 18. Vision Res. 2012. PMID: 23000274 Free article.

9

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: bonnet c. PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584. eCollection 2015. PLoS One. 2015. PMID: 25798947 Free PMC article.

10

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Dahmani M, Ammar-Khodja F, Bonnet C, Lefèvre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C. Dahmani M, et al. Among authors: bonnet c. Orphanet J Rare Dis. 2015 Aug 19;10:96. doi: 10.1186/s13023-015-0316-8. Orphanet J Rare Dis. 2015. PMID: 26282398 Free PMC article.

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