Lamantea E - Search Results

1

Expanding the Spectrum of NUBPL-Related Leukodystrophy.

Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Among authors: lamantea e. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.

2

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

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

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia AR, Borrone C, Gibson KM. Di Rocco M, et al. Among authors: lamantea e. J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613. J Inherit Metab Dis. 1999. PMID: 10399091

5

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.

6

Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

Lamantea E, Zeviani M. Lamantea E, et al. Ann Neurol. 2004 Sep;56(3):454-5. doi: 10.1002/ana.20219. Ann Neurol. 2004. PMID: 15349879 No abstract available.

7

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

8

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.

9

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

10

A new mutation in GJC2 associated with subclinical leukodystrophy.

Abrams CK, Scherer SS, Flores-Obando R, Freidin MM, Wong S, Lamantea E, Farina L, Scaioli V, Pareyson D, Salsano E. Abrams CK, et al. Among authors: lamantea e. J Neurol. 2014 Oct;261(10):1929-38. doi: 10.1007/s00415-014-7429-1. Epub 2014 Jul 25. J Neurol. 2014. PMID: 25059390 Free PMC article.

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