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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: melzi l. 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.
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: melzi l. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
12 results