Paquis-Flucklinger V - Search Results

1

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. 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.

2

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. Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834. Eur J Pediatr. 1995. PMID: 7556323

3

Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions.

Paul R, Desnuelle C, Pouget J, Pellissier JF, Richelme C, Monfort MF, Butori C, Saunieres A, Paquis-Flucklinger V. Paul R, et al. Eur J Hum Genet. 2000 May;8(5):331-8. doi: 10.1038/sj.ejhg.5200463. Eur J Hum Genet. 2000. PMID: 10854092

4

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS. Giuliano F, et al. Hum Mutat. 2005 Jan;25(1):99-100. doi: 10.1002/humu.9300. Hum Mutat. 2005. PMID: 15605410

5

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Hum Mutat. 2005 Jun;25(6):575-82. doi: 10.1002/humu.20177. Hum Mutat. 2005. PMID: 15880407

6

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V. Monnot S, et al. Arch Pediatr. 2005 May;12(5):568-71. doi: 10.1016/j.arcped.2005.01.019. Arch Pediatr. 2005. PMID: 15885549 French.

7

A novel homozygous MMP2 mutation in a family with Winchester syndrome.

Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. Rouzier C, et al. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x. Clin Genet. 2006. PMID: 16542393

8

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. 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

9

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC. Procaccio V, et al. Mol Diagn Ther. 2006;10(6):381-9. doi: 10.1007/BF03256215. Mol Diagn Ther. 2006. PMID: 17154655

10

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Bourdon A, et al. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7. Nat Genet. 2007. PMID: 17486094

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