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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.
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
[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.
Early-onset fatal encephalomyopathy associated with severe mtDNA depletion.
Paquis-Flucklinger V, Pellissier JF, Camboulives J, Chabrol B, Saunières A, Monfort MF, Giudicelli H, Desnuelle C. Paquis-Flucklinger V, et al. Among authors: desnuelle c. Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834. Eur J Pediatr. 1995. PMID: 7556323
210 results