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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: pellissier jf. 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
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: pellissier jf. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
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: pellissier jf. Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834. Eur J Pediatr. 1995. PMID: 7556323
[Mitochondrial and ocular myopathies (62 cases)].
Serratrice G, Pellissier JF, Desnuelle C, Pouget J. Serratrice G, et al. Among authors: pellissier jf. Rev Neurol (Paris). 1991;147(6-7):474-5. Rev Neurol (Paris). 1991. PMID: 1962053 French.
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
Aquaron R, Bergé-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J. Aquaron R, et al. Among authors: pellissier jf. Neuromuscul Disord. 2007 Mar;17(3):235-41. doi: 10.1016/j.nmd.2006.12.014. Epub 2007 Feb 26. Neuromuscul Disord. 2007. PMID: 17324573
369 results