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Year Number of Results
2012 1
2014 2
2016 1
2017 3
2018 3
2019 3
2020 2
2021 2
2022 4
2023 5
2024 3
2025 0

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26 results

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Page 1
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Di Nottia M, Rizza T, Baruffini E, Nesti C, Torraco A, Diodato D, Martinelli D, Dal Canto F, Gilea AI, Zoccola M, Siri B, Dionisi-Vici C, Bertini E, Santorelli FM, Goffrini P, Carrozzo R. Di Nottia M, et al. Front Genet. 2024 Aug 20;15:1437959. doi: 10.3389/fgene.2024.1437959. eCollection 2024. Front Genet. 2024. PMID: 39233737 Free PMC article.
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R. Berti B, et al. Among authors: di nottia m. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: di nottia m. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.
Inflammatory profile in mitochondrial diseases: A cohort study.
Primiano G, Plantone D, Piro G, Carbone C, Sabino A, Sancricca C, Di Nottia M, Carrozzo R, Servidei S. Primiano G, et al. Among authors: di nottia m. Eur J Neurol. 2023 Oct;30(10):3409-3410. doi: 10.1111/ene.15962. Epub 2023 Jul 16. Eur J Neurol. 2023. PMID: 37402160 No abstract available.
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Marinaccio J, Micheli E, Udroiu I, Di Nottia M, Carrozzo R, Baranzini N, Grimaldi A, Leone S, Moreno S, Muzzi M, Sgura A. Marinaccio J, et al. Among authors: di nottia m. Int J Mol Sci. 2023 Feb 23;24(5):4450. doi: 10.3390/ijms24054450. Int J Mol Sci. 2023. PMID: 36901881 Free PMC article.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: di nottia m. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. Verrigni D, et al. Among authors: di nottia m. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875 Free article.
26 results