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

Year Number of Results
1957 1
1959 9
1960 7
1961 11
1962 2
1963 2
1964 3
1965 2
1966 6
1967 1
1968 8
1969 8
1971 1
1973 1
1974 2
1977 1
1979 1
1980 1
1981 1
1982 1
1996 1
1999 4
2000 3
2001 5
2002 2
2003 3
2004 3
2005 2
2006 3
2007 1
2008 9
2009 10
2010 3
2011 2
2012 3
2013 1
2014 2
2015 2
2016 4
2017 4
2018 3
2019 7
2020 6
2021 7
2022 2
2023 5
2024 2

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Search Results

157 results

Results by year

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Page 1
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: spinazzola a. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: spinazzola a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: spinazzola a. Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. Brain. 2024. PMID: 38242545 Free PMC article.
Mitochondrial disorders.
Zeviani M, Spinazzola A. Zeviani M, et al. Among authors: spinazzola a. Curr Neurol Neurosci Rep. 2003 Sep;3(5):423-32. doi: 10.1007/s11910-003-0026-9. Curr Neurol Neurosci Rep. 2003. PMID: 12914686 Review.
Mitochondrial diseases: translation matters.
Pearce S, Nezich CL, Spinazzola A. Pearce S, et al. Among authors: spinazzola a. Mol Cell Neurosci. 2013 Jul;55:1-12. doi: 10.1016/j.mcn.2012.08.013. Epub 2012 Sep 7. Mol Cell Neurosci. 2013. PMID: 22986124 Review.
Beyond the unwinding: role of TOP1MT in mitochondrial translation.
Baechler SA, Dalla Rosa I, Spinazzola A, Pommier Y. Baechler SA, et al. Among authors: spinazzola a. Cell Cycle. 2019 Oct;18(19):2377-2384. doi: 10.1080/15384101.2019.1646563. Epub 2019 Aug 9. Cell Cycle. 2019. PMID: 31345095 Free PMC article. Review.
Mitochondrial DNA competition: starving out the mutant genome.
Spinazzola A, Perez-Rodriguez D, Ježek J, Holt IJ. Spinazzola A, et al. Trends Pharmacol Sci. 2024 Mar;45(3):225-242. doi: 10.1016/j.tips.2024.01.011. Epub 2024 Feb 23. Trends Pharmacol Sci. 2024. PMID: 38402076 Free article. Review.
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation.
Palmieri M, Currò A, Tommasi A, Di Sarno L, Doddato G, Baldassarri M, Frullanti E, Giliberti AR, Fallerini C, Spinazzola A, Pinto AM, Renieri A, Vaghi M. Palmieri M, et al. Among authors: spinazzola a. JVS Vasc Sci. 2020 Sep 2;1:176-180. doi: 10.1016/j.jvssci.2020.08.002. eCollection 2020. JVS Vasc Sci. 2020. PMID: 34617046 Free PMC article.
Nuclear genes in mitochondrial disorders.
Zeviani M, Spinazzola A, Carelli V. Zeviani M, et al. Among authors: spinazzola a. Curr Opin Genet Dev. 2003 Jun;13(3):262-70. doi: 10.1016/s0959-437x(03)00052-2. Curr Opin Genet Dev. 2003. PMID: 12787788 Review.
157 results