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Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: lamperti c. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V. Brunetti D, et al. Among authors: lamperti c. Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6. Brain. 2014. PMID: 24316510 Free PMC article.
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Diodato D, et al. Among authors: lamperti c. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17. JIMD Rep. 2015. PMID: 24740313 Free PMC article.
Retinal dysfunction characterizes subtypes of dominant optic atrophy.
Cascavilla ML, Parisi V, Triolo G, Ziccardi L, Borrelli E, Di Renzo A, Balducci N, Lamperti C, Bianchi Marzoli S, Darvizeh F, Sadun AA, Carelli V, Bandello F, Barboni P. Cascavilla ML, et al. Among authors: lamperti c. Acta Ophthalmol. 2018 Mar;96(2):e156-e163. doi: 10.1111/aos.13557. Epub 2017 Sep 19. Acta Ophthalmol. 2018. PMID: 28926202 Free article.
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C. Catania A, et al. Among authors: lamperti c. Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25. Neurol Sci. 2019. PMID: 30911858 No abstract available.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. Caporali L, et al. Among authors: lamperti c. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.
149 results