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Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Cipriani S, et al. Among authors: lamperti c. Eur J Neurol. 2023 Feb;30(2):511-526. doi: 10.1111/ene.15601. Epub 2022 Nov 21. Eur J Neurol. 2023. PMID: 36260368 Free PMC article.
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M, Pareyson D. Salsano E, et al. Among authors: lamperti c. J Neurol. 2013 Jun;260(6):1617-23. doi: 10.1007/s00415-013-6844-z. Epub 2013 Jan 29. J Neurol. 2013. PMID: 23358625 Review.
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Dallabona C, et al. Among authors: lamperti c. Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7. Neurology. 2014. PMID: 24808023 Free PMC article.
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.
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Aleksovska K, Kobulashvili T, Costa J, Zimmermann G, Ritchie K, Reinhard C, Vignatelli L, Fanciulli A, Damian M, Pavlakova L, Burgunder JM, Kopishinskaya S, Rakusa M, Kovacs N, Erdogan FF, Linton LR, Copetti M, Lamperti C, Servidei S, Evangelista T, Ayme S, Pareyson D, Sellner J, Krarup C, de Visser M, van den Bergh P, Toscano A, Graessner H, Berger T, Bassetti C, Vidailhet M, Trinka E, Deuschl G, Federico A, Leone MA. Aleksovska K, et al. Among authors: lamperti c. Eur J Neurol. 2022 Jun;29(6):1571-1586. doi: 10.1111/ene.15267. Epub 2022 Mar 23. Eur J Neurol. 2022. PMID: 35318776
Multifocal vitelliform lesions associated with mitochondrial retinopathy.
Battaglia Parodi M, Antropoli A, Bianco L, Arrigo A, Del Fabbro S, Carrera P, Spiga I, Catania A, Lamperti C, Bandello F, Mansour A. Battaglia Parodi M, et al. Among authors: lamperti c. Am J Ophthalmol Case Rep. 2024 Oct 2;36:102181. doi: 10.1016/j.ajoc.2024.102181. eCollection 2024 Dec. Am J Ophthalmol Case Rep. 2024. PMID: 39411423 Free PMC article.
Lack of apoptosis in mitochondrial encephalomyopathies.
Sciacco M, Fagiolari G, Lamperti C, Messina S, Bazzi P, Napoli L, Chiveri L, Prelle A, Comi GP, Bresolin N, Scarlato G, Moggio M. Sciacco M, et al. Among authors: lamperti c. Neurology. 2001 Apr 24;56(8):1070-4. doi: 10.1212/wnl.56.8.1070. Neurology. 2001. PMID: 11320180
153 results