Paquis-Flucklinger V - Search Results

1

Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.

Belmonte FR, Dedousis N, Sipula I, Desai NA, Singhi AD, Chu Y, Zhang Y, Bannwarth S, Paquis-Flucklinger V, Harrington L, Shiva S, Jurczak MJ, O'Doherty RM, Kaufman BA. Belmonte FR, et al. PLoS One. 2019 May 28;14(5):e0203101. doi: 10.1371/journal.pone.0203101. eCollection 2019. PLoS One. 2019. PMID: 31136580 Free PMC article.

2

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

3

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

4

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

5

Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Nat Protoc. 2006;1(4):2037-47. doi: 10.1038/nprot.2006.318. Nat Protoc. 2006. PMID: 17487193

6

Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.

Bannwarth S, Procaccio V, Paquis-Flucklinger V. Bannwarth S, et al. Methods Mol Biol. 2009;554:301-13. doi: 10.1007/978-1-59745-521-3_19. Methods Mol Biol. 2009. PMID: 19513682

7

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

Fragaki K, Procaccio V, Bannwarth S, Serre V, O'Hearn S, Potluri P, Augé G, Casagrande F, Caruba C, Lambert JC, Paquis-Flucklinger V. Fragaki K, et al. Mitochondrion. 2009 Sep;9(5):346-52. doi: 10.1016/j.mito.2009.06.002. Epub 2009 Jun 27. Mitochondrion. 2009. PMID: 19563916

8

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.

9

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

Fragaki K, Cano A, Benoist JF, Rigal O, Chaussenot A, Rouzier C, Bannwarth S, Caruba C, Chabrol B, Paquis-Flucklinger V. Fragaki K, et al. Mitochondrion. 2011 May;11(3):533-6. doi: 10.1016/j.mito.2011.02.002. Epub 2011 Feb 15. Mitochondrion. 2011. PMID: 21329767

10

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, Cano A, Labauge P, Paquis-Flucklinger V. Chaussenot A, et al. Ann Neurol. 2011 Mar;69(3):501-8. doi: 10.1002/ana.22160. Epub 2010 Dec 28. Ann Neurol. 2011. PMID: 21446023

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