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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Among authors: donati a. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: donati a. J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29. J Neurol. 2014. PMID: 24375076
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Fattori F, et al. Among authors: donati a. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10. J Neurol. 2015. PMID: 25957634
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Nasca A, et al. Among authors: donati a. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28544275 Free PMC article.
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group. Brogna C, et al. Among authors: donati a. PLoS One. 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019. PLoS One. 2019. PMID: 31237898 Free PMC article.
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Brogna C, Coratt G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group. Brogna C, et al. Among authors: donati a. PLoS One. 2019 Jul 31;14(7):e0220714. doi: 10.1371/journal.pone.0220714. eCollection 2019. PLoS One. 2019. PMID: 31365579 Free PMC article.
Early neurodevelopmental characterization in children with cobalamin C/defect.
Ricci D, Martinelli D, Ferrantini G, Lucibello S, Gambardella M, Olivieri G, Chieffo D, Battaglia D, Diodato D, Iarossi G, Donati AM, Dionisi-Vici C, Battini R, Mercuri EM. Ricci D, et al. J Inherit Metab Dis. 2020 Mar;43(2):367-374. doi: 10.1002/jimd.12171. Epub 2020 Jan 16. J Inherit Metab Dis. 2020. PMID: 31503356
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.
Brogna C, Coratti G, Rossi R, Neri M, Messina S, Amico A, Bruno C, Lucibello S, Vita G, Berardinelli A, Magri F, Ricci F, Pedemonte M, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Politano L, Comi GP, Sansone VA, Albamonte E, Donati A, Bertini E, Goemans N, Previtali S, Bovis F, Pane M, Ferlini A, Mercuri E; on behalf on the International DMD group. Brogna C, et al. Among authors: donati a. Neuromuscul Disord. 2021 Jun;31(6):479-488. doi: 10.1016/j.nmd.2021.02.015. Epub 2021 Feb 21. Neuromuscul Disord. 2021. PMID: 33773883
460 results