Lamantea E - Search Results

1

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F. Verderio E, et al. Among authors: lamantea e. Hum Mol Genet. 1995 Jan;4(1):19-29. doi: 10.1093/hmg/4.1.19. Hum Mol Genet. 1995. PMID: 7711730

2

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. Taroni F, et al. Among authors: lamantea e. Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8429-33. doi: 10.1073/pnas.89.18.8429. Proc Natl Acad Sci U S A. 1992. PMID: 1528846 Free PMC article.

3

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.

Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Hum Mol Genet. 1995 Nov;4(11):2017-23. doi: 10.1093/hmg/4.11.2017. Hum Mol Genet. 1995. PMID: 8589677

4

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M. Munaro M, et al. Among authors: lamantea e. Hum Mol Genet. 1997 Feb;6(2):221-8. doi: 10.1093/hmg/6.2.221. Hum Mol Genet. 1997. PMID: 9063742

5

Fumarate hydratase deficiency.

Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Bonioli E, et al. Among authors: lamantea e. J Inherit Metab Dis. 1998 Jun;21(4):435-6. doi: 10.1023/a:1005379330187. J Inherit Metab Dis. 1998. PMID: 9700607 No abstract available.

6

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F. Pons R, et al. Among authors: lamantea e. Pediatr Neurol. 2000 Feb;22(2):98-105. doi: 10.1016/s0887-8994(99)00132-0. Pediatr Neurol. 2000. PMID: 10738914

7

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Hum Mol Genet. 2000 Nov 1;9(18):2733-42. doi: 10.1093/hmg/9.18.2733. Hum Mol Genet. 2000. PMID: 11063732

8

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: lamantea e. Hum Mol Genet. 2003 Feb 15;12(4):399-413. doi: 10.1093/hmg/ddg038. Hum Mol Genet. 2003. PMID: 12566387

9

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

10

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: lamantea e. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28. Am J Hum Genet. 2014. PMID: 25175347 Free PMC article.

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