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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: desnuelle 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
Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.
Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C. Perucca-Lostanlen D, et al. Among authors: desnuelle c. Biochim Biophys Acta. 2002 Dec 12;1588(3):210-6. doi: 10.1016/s0925-4439(02)00167-9. Biochim Biophys Acta. 2002. PMID: 12393175 Free article.
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: desnuelle c. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
[Detection and prevalence of mitochondrial genome mutations in diabetes].
Paquis-Flucklinger V, Vialettes B, Canivet B, Freychet P, Hieronimus S, Vague P, Saunières A, Desnuelle C. Paquis-Flucklinger V, et al. Among authors: desnuelle c. Journ Annu Diabetol Hotel Dieu. 1997:25-31. Journ Annu Diabetol Hotel Dieu. 1997. PMID: 9296981 Review. French. No abstract available.
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C. Vialettes BH, et al. Among authors: desnuelle c. Diabetes Care. 1997 Nov;20(11):1731-7. doi: 10.2337/diacare.20.11.1731. Diabetes Care. 1997. PMID: 9353617
216 results