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A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.
Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D. Ardissone A, et al. Among authors: lamantea e. Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1. Neurology. 2015. PMID: 25934856 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.
Epileptic phenotypes associated with mitochondrial disorders.
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Canafoglia L, et al. Among authors: lamantea e. Neurology. 2001 May 22;56(10):1340-6. doi: 10.1212/wnl.56.10.1340. Neurology. 2001. PMID: 11376185
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.
Clinical and molecular findings in children with complex I deficiency.
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M. Bugiani M, et al. Among authors: lamantea e. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006. Biochim Biophys Acta. 2004. PMID: 15576045 Free article.
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M. Bugiani M, et al. Among authors: lamantea e. Neurology. 2006 Jul 25;67(2):273-9. doi: 10.1212/01.wnl.0000223832.66286.e4. Epub 2006 May 17. Neurology. 2006. PMID: 16707726 Clinical Trial.
111 results