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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: fagiolari g. Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6. Brain. 2014. PMID: 24316510 Free PMC article.
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
Onesto E, Colombrita C, Gumina V, Borghi MO, Dusi S, Doretti A, Fagiolari G, Invernizzi F, Moggio M, Tiranti V, Silani V, Ratti A. Onesto E, et al. Among authors: fagiolari g. Acta Neuropathol Commun. 2016 May 5;4(1):47. doi: 10.1186/s40478-016-0316-5. Acta Neuropathol Commun. 2016. PMID: 27151080 Free PMC article.
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: fagiolari g. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 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: fagiolari g. Neurology. 2001 Apr 24;56(8):1070-4. doi: 10.1212/wnl.56.8.1070. Neurology. 2001. PMID: 11320180
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: fagiolari g. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875 Free article.
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