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Page 1
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V. Naïmi M, et al. Among authors: richelme c. Eur J Hum Genet. 2006 Aug;14(8):917-22. doi: 10.1038/sj.ejhg.5201627. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639411
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: richelme c. Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7. Eur J Hum Genet. 2014. PMID: 23921535 Free PMC article.
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S. Rouzier C, et al. Among authors: richelme c. J Hum Genet. 2019 Jul;64(7):637-645. doi: 10.1038/s10038-019-0594-4. Epub 2019 Apr 4. J Hum Genet. 2019. PMID: 30948790 Review.
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V. Rouzier C, et al. Among authors: richelme c. J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7. J Med Genet. 2010. PMID: 20693550 Free article.
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
Humbertclaude V, Hamroun D, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'Guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Picot MC, Claustres M, Béroud C, Tuffery-Giraud S. Humbertclaude V, et al. Among authors: richelme c. Eur J Paediatr Neurol. 2012 Mar;16(2):149-60. doi: 10.1016/j.ejpn.2011.07.001. Epub 2011 Sep 15. Eur J Paediatr Neurol. 2012. PMID: 21920787
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].
Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M. Humbertclaude V, et al. Among authors: richelme c. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):583-94. doi: 10.1016/j.neurol.2013.04.004. Epub 2013 Aug 14. Rev Neurol (Paris). 2013. PMID: 23954141 French.
49 results