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

Year Number of Results
2004 1
2008 4
2009 2
2010 1
2011 1
2013 3
2014 5
2015 3
2016 2
2017 5
2019 3
2020 5
2021 3
2022 3
2023 1
2024 0

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35 results

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Page 1
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Peverelli L, et al. Among authors: marchet s. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
Transcription Factor EB Controls Metabolic Flexibility during Exercise.
Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A. Mansueto G, et al. Among authors: marchet s. Cell Metab. 2017 Jan 10;25(1):182-196. doi: 10.1016/j.cmet.2016.11.003. Epub 2016 Dec 20. Cell Metab. 2017. PMID: 28011087 Free PMC article.
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M. Montano V, et al. Among authors: marchet s. J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18. J Neurol. 2022. PMID: 35980466 Free PMC article.
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
Montano V, Orsucci D, Carelli V, La Morgia C, Valentino ML, Lamperti C, Marchet S, Musumeci O, Toscano A, Primiano G, Santorelli FM, Ticci C, Filosto M, Rubegni A, Mongini T, Tonin P, Servidei S, Ceravolo R, Siciliano G, Mancuso M. Montano V, et al. Among authors: marchet s. J Neurol. 2022 Mar;269(3):1413-1421. doi: 10.1007/s00415-021-10697-1. Epub 2021 Jul 14. J Neurol. 2022. PMID: 34259909 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: marchet s. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875 Free article.
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: marchet s. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
Montano V, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Modenese A, Primiano G, Valentino ML, Bortolani S, Marchet S, Meneri M, Tavilla G, Siciliano G, Mancuso M. Montano V, et al. Among authors: marchet s. Neurol Genet. 2020 Oct 20;6(6):e519. doi: 10.1212/NXG.0000000000000519. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209982 Free PMC article.
35 results