Zeviani M - Search Results

1

Identification and characterization of a spinal muscular atrophy-determining gene.

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Lefebvre S, et al. Among authors: zeviani m. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3. Cell. 1995. PMID: 7813012 Free article.

2

[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].

Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M, Le Paslier D, et al. Melki J, et al. Among authors: zeviani m. C R Seances Soc Biol Fil. 1994;188(5-6):495-8. C R Seances Soc Biol Fil. 1994. PMID: 7780792 Review. French.

3

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou B, Zeviani M, Le Paslier D, et al. Melki J, et al. Among authors: zeviani m. Science. 1994 Jun 3;264(5164):1474-7. doi: 10.1126/science.7910982. Science. 1994. PMID: 7910982

4

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.

Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M. Battaglia G, et al. Among authors: zeviani m. Hum Mol Genet. 1997 Oct;6(11):1961-71. doi: 10.1093/hmg/6.11.1961. Hum Mol Genet. 1997. PMID: 9302277

5

Characterization and expression of the mouse endonuclease G gene.

Prats E, Noël M, Létourneau J, Tiranti V, Vaqué J, Debón R, Zeviani M, Cornudella L, Ruiz-Carrillo A. Prats E, et al. Among authors: zeviani m. DNA Cell Biol. 1997 Sep;16(9):1111-22. doi: 10.1089/dna.1997.16.1111. DNA Cell Biol. 1997. PMID: 9324313

6

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Casari G, et al. Among authors: zeviani m. Cell. 1998 Jun 12;93(6):973-83. doi: 10.1016/s0092-8674(00)81203-9. Cell. 1998. PMID: 9635427 Free article.

7

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Péquignot MO, et al. Among authors: zeviani m. Hum Mutat. 2001 May;17(5):374-81. doi: 10.1002/humu.1112. Hum Mutat. 2001. PMID: 11317352

8

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.

Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M, Marsac C. Pequignot MO, et al. Among authors: zeviani m. J Biol Chem. 2001 May 4;276(18):15326-9. doi: 10.1074/jbc.M100388200. Epub 2001 Feb 6. J Biol Chem. 2001. PMID: 11279059 Free article.

9

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.

Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Hum Mol Genet. 1997 Apr;6(4):615-25. doi: 10.1093/hmg/6.4.615. Hum Mol Genet. 1997. PMID: 9097968

10

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Agostino A, et al. Among authors: zeviani m. Hum Mol Genet. 2003 Feb 15;12(4):399-413. doi: 10.1093/hmg/ddg038. Hum Mol Genet. 2003. PMID: 12566387

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