21
results
for author:"Procaccio V."
in Literature Citations
| BDNF Val66Met Polymorphism Influences Motor System Function in the Human Brain. McHughen S.A., Rodriguez P.F., Kleim J.A., Kleim E.D., Crespo L.M., Procaccio V., Cramer S.C. Cereb. Cortex 0:0-0(2009) · Mapped (6) |
| Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Ferre M., Bonneau D., Milea D., Chevrollier A., Verny C., Dollfus H., Ayuso C., Defoort S., Vignal C., Zanlonghi X. et al. Hum. Mutat. 30:E692-705(2009) · Mapped (3) |
| A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Potluri P., Davila A., Ruiz-Pesini E., Mishmar D., O'Hearn S., Hancock S., Simon M., Scheffler I.E., Wallace D.C., Procaccio V. Mol. Genet. Metab. 96:189-195(2009) · Mapped (2) |
| Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Cassereau J., Chevrollier A., Gueguen N., Malinge M.C., Letournel F., Nicolas G., Richard L., Ferre M., Verny C., Dubas F. et al. Neurogenetics 10:145-150(2009) · Mapped (3) |
| Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Verny C., Amati-Bonneau P., Letournel F., Person B., Dib N., Malinge M.C., Slama A., Le Marechal C., Ferec C., Procaccio V. et al. Diabetes Metab. 34:620-626(2008) · Mapped (4) |
| Reversible optic neuropathy with OPA1 exon 5b mutation. Cornille K., Milea D., Amati-Bonneau P., Procaccio V., Zazoun L., Guillet V., El Achouri G., Delettre C., Gueguen N., Loiseau D. et al. Ann. Neurol. 63:667-671(2008) · Mapped (2) |
| 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. et al. Am. J. Med. Genet. A 143A:1605-1612(2007) · Mapped (2) |
| A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Sarzi E., Brown M.D., Lebon S., Chretien D., Munnich A., Rotig A., Procaccio V. Am. J. Med. Genet. A 143:33-41(2007) · UniProtKB (1) · Mapped (2) |
| Adaptive selection of mitochondrial complex I subunits during primate radiation. Mishmar D., Ruiz-Pesini E., Mondragon-Palomino M., Procaccio V., Gaut B., Wallace D.C. Gene 378:11-18(2006) · UniProtKB (114) |
| A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Procaccio V., Salazar G., Ono S., Styers M.L., Gearing M., Davila A., Jimenez R., Juncos J., Gutekunst C.-A., Meroni G. et al. Am. J. Hum. Genet. 78:947-960(2006) · UniProtKB (1) · Mapped (15) |
| BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex. Kleim J.A., Chan S., Pringle E., Schallert K., Procaccio V., Jimenez R., Cramer S.C. Nat. Neurosci. 9:735-737(2006) · Mapped (6) |
| Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C. et al. Eur. J. Hum. Genet. 14:917-922(2006) · UniProtKB (1) |
| Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels. Stirone C., Duckles S.P., Krause D.N., Procaccio V. Mol. Pharmacol. 68:959-965(2005) · Mapped (1) |
| Friedreich ataxia: the oxidative stress paradox. Seznec H., Simon D., Bouton C., Reutenauer L., Hertzog A., Golik P., Procaccio V., Patel M., Drapier J.C., Koenig M. et al. Hum. Mol. Genet. 14:463-474(2005) · Mapped (3) |
| Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Procaccio V., Wallace D.C. Neurology 62:1899-1901(2004) · Mapped (4) |
| Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression. Procaccio V., Lescuyer P., Bourges I., Beugnot R., Duborjal H., Depetris D., Mousson B., Montfort M.F., Smeets H., De Coo R. et al. Mamm. Genome 11:808-810(2000) · UniProtKB (1) |
| Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. de Sury R., Martinez P., Procaccio V., Lunardi J., Issartel J.-P. Gene 215:1-10(1998) · UniProtKB (1) |
| Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria. Procaccio V., de Sury R., Martinez P., Depetris D., Rabilloud T., Soularue P., Lunardi J., Issartel J.-P. Mamm. Genome 9:482-484(1998) · UniProtKB (1) |
| Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Monnier N., Procaccio V., Stieglitz P., Lunardi J. Am. J. Hum. Genet. 60:1316-1325(1997) · UniProtKB (1) |
| cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. Procaccio V., Depetris D., Soularue P., Mattei M.-G., Lunardi J., Issartel J.-P. Biochim. Biophys. Acta 1351:37-41(1997) · UniProtKB (1) |
| Identification of five Rhodobacter capsulatus genes encoding the equivalent of ND subunits of the mitochondrial NADH-ubiquinone oxidoreductase. Dupuis A., Peinnequin A., Chevallet M., Lunardi J., Darrouzet E., Pierrard B., Procaccio V., Issartel J.P. Gene 167:99-104(1995) · UniProtKB (7) |
