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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1995 2
1997 2
1998 3
1999 3
2000 6
2001 4
2002 4
2003 2
2004 3
2005 3
2006 4
2007 1
2008 5
2009 3
2010 3
2011 3
2012 4
2013 4
2014 8
2015 7
2016 4
2017 7
2018 6
2019 6
2020 5
2021 7
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116 results

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Page 1
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: lamantea e. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
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.
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 PMC article.
Mitochondrial Diseases in Childhood.
Ardissone A, Lamantea E, Invernizzi F, Zeviani M, Genitrini S, Moroni I, Uziel G. Ardissone A, et al. Among authors: lamantea e. Curr Mol Med. 2014;14(8):1069-1078. doi: 10.2174/1566524014666141010155317. Curr Mol Med. 2014. PMID: 25323866
Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G. Zambon AA, et al. Among authors: lamantea e. Ann Clin Transl Neurol. 2023 Oct;10(10):1844-1853. doi: 10.1002/acn3.51876. Epub 2023 Aug 29. Ann Clin Transl Neurol. 2023. PMID: 37644805 Free PMC article.
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Magistrati M, Zupin L, Lamantea E, Baruffini E, Ghezzi D, Legati A, Celsi F, Murru FM, Capaci V, Pinamonti M, Bussani R, Carrozzi M, Dallabona C, Zeviani M, Bonati MT. Magistrati M, et al. Among authors: lamantea e. Int J Mol Sci. 2025 Jan 20;26(2):846. doi: 10.3390/ijms26020846. Int J Mol Sci. 2025. PMID: 39859560 Free PMC article. Review.
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.
Bergonzini L, Carli S, Pelle S, Pettenuzzo I, Bonetti S, Santi E, Visconti C, Maffei M, Sheremet M, Lamantea E, Marsala A, Klub O, Gentile V, Cordelli DM, Garone C. Bergonzini L, et al. Among authors: lamantea e. Neurology. 2025 Apr 8;104(7):e213373. doi: 10.1212/WNL.0000000000213373. Epub 2025 Mar 3. Neurology. 2025. PMID: 40030095 Free PMC article.
116 results