Lamantea E - Search Results

1

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Baglivo M, Nasca A, Lamantea E, Vinci S, Spagnolo M, Marchet S, Prokisch H, Catania A, Lamperti C, Ghezzi D. Baglivo M, et al. Among authors: lamantea e. Int J Mol Sci. 2023 Aug 8;24(16):12580. doi: 10.3390/ijms241612580. Int J Mol Sci. 2023. PMID: 37628761 Free PMC article.

2

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.

Ribes A, Riudor E, Garavaglia B, Martinez G, Arranz A, Invernizzi F, Briones P, Lamantea E, Sentís M, Barceló A, Roig M. Ribes A, et al. Among authors: lamantea e. Eur J Pediatr. 1998 Apr;157(4):317-20. doi: 10.1007/s004310050819. Eur J Pediatr. 1998. PMID: 9578969

3

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.

Parini R, Menni F, Garavaglia B, Fesslova V, Melotti D, Massone ML, Lamantea E, Rimoldi M, Vizziello P, Gatti R. Parini R, et al. Among authors: lamantea e. Eur J Pediatr. 1998 Dec;157(12):992-5. doi: 10.1007/s004310050984. Eur J Pediatr. 1998. PMID: 9877038

4

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.

5

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis.

Henderson NS, Nijtmans LG, Lindsay JG, Lamantea E, Zeviani M, Holt IJ. Henderson NS, et al. Among authors: lamantea e. Electrophoresis. 2000 Aug;21(14):2925-31. doi: 10.1002/1522-2683(20000801)21:14<2925::AID-ELPS2925>3.0.CO;2-2. Electrophoresis. 2000. PMID: 11001305

6

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S. Petruzzella V, et al. Among authors: lamantea e. Hum Mol Genet. 2001 Mar 1;10(5):529-35. doi: 10.1093/hmg/10.5.529. Hum Mol Genet. 2001. PMID: 11181577

7

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. Crimi M, et al. Among authors: lamantea e. Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69. Neurology. 2003. PMID: 12796552

8

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M. Tiranti V, et al. Among authors: lamantea e. J Med Genet. 1999 Dec;36(12):927-8. J Med Genet. 1999. PMID: 10636738 Free PMC article. No abstract available.

9

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L, Zeviani M. Galassi G, et al. Among authors: lamantea e. Neuromuscul Disord. 2008 Jun;18(6):465-70. doi: 10.1016/j.nmd.2008.03.013. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504126

10

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Haack TB, et al. Among authors: lamantea e. Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7. Nat Genet. 2010. PMID: 21057504

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