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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: lamantea e. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
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.
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
Poggi GM, Lamantea E, Ciani F, Donati MA, Carrara F, Bartalena L, Garavaglia B, Zammarchi E. Poggi GM, et al. Among authors: lamantea e. J Inherit Metab Dis. 2000 Nov;23(7):755-7. doi: 10.1023/a:1005663804214. J Inherit Metab Dis. 2000. PMID: 11117438 No abstract available.
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.
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
110 results