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Year Number of Results
2012 1
2013 1
2015 1
2016 5
2017 7
2018 4
2019 4
2020 10
2021 9
2022 12
2023 9
2024 6

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59 results

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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. 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.
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.
Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C. Barboni P, et al. Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. Am J Ophthalmol. 2022. PMID: 35452662 Review.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: gramegna ll. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Radial Versus Femoral Access for Mechanical Thrombectomy in Patients With Stroke: A Noninferiority Randomized Clinical Trial.
Hernandez D, Requena M, Olivé-Gadea M, de Dios M, Gramegna LL, Muchada M, García-Tornel Á, Diana F, Rizzo F, Rivera E, Rubiera M, Piñana C, Rodrigo-Gisbert M, Rodríguez-Luna D, Pagola J, Carmona T, Juega J, Rodríguez-Villatoro N, Molina C, Ribo M, Tomasello A. Hernandez D, et al. Stroke. 2024 Apr;55(4):840-848. doi: 10.1161/STROKEAHA.124.046360. Epub 2024 Feb 1. Stroke. 2024. PMID: 38527149 Clinical Trial.
Mitochondrial dysfunction in myotonic dystrophy type 1.
Gramegna LL, Giannoccaro MP, Manners DN, Testa C, Zanigni S, Evangelisti S, Bianchini C, Oppi F, Poda R, Avoni P, Lodi R, Liguori R, Tonon C. Gramegna LL, et al. Neuromuscul Disord. 2018 Feb;28(2):144-149. doi: 10.1016/j.nmd.2017.10.007. Epub 2017 Nov 14. Neuromuscul Disord. 2018. PMID: 29289451
Brain functional connectivity in sleep-related hypermotor epilepsy.
Evangelisti S, Testa C, Ferri L, Gramegna LL, Manners DN, Rizzo G, Remondini D, Castellani G, Naldi I, Bisulli F, Tonon C, Tinuper P, Lodi R. Evangelisti S, et al. Neuroimage Clin. 2017 Dec 6;17:873-881. doi: 10.1016/j.nicl.2017.12.002. eCollection 2018. Neuroimage Clin. 2017. PMID: 29527492 Free PMC article.
59 results