Lamantea E - Search Results

1

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: lamantea e. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994

2

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.

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

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.

Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Uziel G, et al. Among authors: lamantea e. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221962 Free PMC article.

6

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M. Tiranti V, et al. Among authors: lamantea e. Neuromuscul Disord. 1999 Mar;9(2):66-71. doi: 10.1016/s0960-8966(98)00103-5. Neuromuscul Disord. 1999. PMID: 10220860

7

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.

8

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

9

Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.

Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Uziel G, et al. Among authors: lamantea e. Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7. Neuromuscul Disord. 2000. PMID: 10899447

10

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

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