Procaccio V - Search Results

1

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: procaccio v. 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

2

Effects of purifying and adaptive selection on regional variation in human mtDNA.

Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. Ruiz-Pesini E, et al. Among authors: procaccio v. Science. 2004 Jan 9;303(5655):223-6. doi: 10.1126/science.1088434. Science. 2004. PMID: 14716012

3

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.

Procaccio V, Wallace DC. Procaccio V, et al. Neurology. 2004 May 25;62(10):1899-901. doi: 10.1212/01.wnl.0000125251.56131.65. Neurology. 2004. PMID: 15159508 Free PMC article. Review.

4

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. Among authors: procaccio v. Hum Mutat. 2005 Jun;25(6):575-82. doi: 10.1002/humu.20177. Hum Mutat. 2005. PMID: 15880407

5

Adaptive selection of mitochondrial complex I subunits during primate radiation.

Mishmar D, Ruiz-Pesini E, Mondragon-Palomino M, Procaccio V, Gaut B, Wallace DC. Mishmar D, et al. Among authors: procaccio v. Gene. 2006 Aug 15;378:11-8. doi: 10.1016/j.gene.2006.03.015. Epub 2006 Jul 7. Gene. 2006. PMID: 16828987

6

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. Sarzi E, et al. Among authors: procaccio v. Am J Med Genet A. 2007 Jan 1;143A(1):33-41. doi: 10.1002/ajmg.a.31565. Am J Med Genet A. 2007. PMID: 17152068

7

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

8

An enhanced MITOMAP with a global mtDNA mutational phylogeny.

Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC. Ruiz-Pesini E, et al. Among authors: procaccio v. Nucleic Acids Res. 2007 Jan;35(Database issue):D823-8. doi: 10.1093/nar/gkl927. Epub 2006 Dec 18. Nucleic Acids Res. 2007. PMID: 17178747 Free PMC article.

9

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. Among authors: procaccio v. Nat Protoc. 2006;1(4):2037-47. doi: 10.1038/nprot.2006.318. Nat Protoc. 2006. PMID: 17487193

10

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Among authors: procaccio v. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405

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