Procaccio V - Search Results

1

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, van Broeckhoven C, Ellis R, Heyetens L, Hartung EJ, Kozak-Ribbens G, et al. Sudbrak R, et al. Among authors: procaccio v. Am J Hum Genet. 1995 Mar;56(3):684-91. Am J Hum Genet. 1995. PMID: 7887423 Free PMC article.

2

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. Monnier N, et al. Among authors: procaccio v. Am J Hum Genet. 1997 Jun;60(6):1316-25. doi: 10.1086/515454. Am J Hum Genet. 1997. PMID: 9199552 Free PMC article.

3

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Among authors: procaccio v. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.

4

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 MG, Lunardi J, Issartel JP. Procaccio V, et al. Biochim Biophys Acta. 1997 Mar 20;1351(1-2):37-41. doi: 10.1016/s0167-4781(97)00020-1. Biochim Biophys Acta. 1997. PMID: 9116042

5

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. Procaccio V, et al. Mamm Genome. 1998 Jun;9(6):482-4. doi: 10.1007/s003359900803. Mamm Genome. 1998. PMID: 9585441 No abstract available.

6

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 JP. de Sury R, et al. Among authors: procaccio v. Gene. 1998 Jul 17;215(1):1-10. doi: 10.1016/s0378-1119(98)00275-3. Gene. 1998. PMID: 9666055

7

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.

Procaccio V, Mousson B, Beugnot R, Duborjal H, Feillet F, Putet G, Pignot-Paintrand I, Lombès A, De Coo R, Smeets H, Lunardi J, Issartel JP. Procaccio V, et al. J Clin Invest. 1999 Jul;104(1):83-92. doi: 10.1172/JCI6184. J Clin Invest. 1999. PMID: 10393702 Free PMC article.

8

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 JP. Dupuis A, et al. Among authors: procaccio v. Gene. 1995 Dec 29;167(1-2):99-104. doi: 10.1016/0378-1119(95)00693-1. Gene. 1995. PMID: 8566820

9

Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: toward a human mitochondrial proteome.

Rabilloud T, Kieffer S, Procaccio V, Louwagie M, Courchesne PL, Patterson SD, Martinez P, Garin J, Lunardi J. Rabilloud T, et al. Among authors: procaccio v. Electrophoresis. 1998 May;19(6):1006-14. doi: 10.1002/elps.1150190616. Electrophoresis. 1998. PMID: 9638947

10

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Angebault C, et al. Among authors: procaccio v. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. Hum Mol Genet. 2015. PMID: 25901006

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