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Page 1
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. Lualdi S, et al. Among authors: battini r. Biochim Biophys Acta. 2006 Apr;1762(4):478-84. doi: 10.1016/j.bbadis.2006.01.003. Epub 2006 Feb 9. Biochim Biophys Acta. 2006. PMID: 16495038 Free article.
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Among authors: battini r. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A. Santorelli FM, et al. Among authors: battini r. Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19. Orphanet J Rare Dis. 2013. PMID: 23374165 Free PMC article.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: battini r. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Among authors: battini r. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.
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: battini r. 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
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy.
Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, de Waure C, Bertini E, Mercuri E. Mazzone E, et al. Among authors: battini r. Neuromuscul Disord. 2010 Nov;20(11):712-6. doi: 10.1016/j.nmd.2010.06.014. Epub 2010 Jul 14. Neuromuscul Disord. 2010. PMID: 20634072
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E. Mazzone ES, et al. Among authors: battini r. PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016. PLoS One. 2016. PMID: 26982196 Free PMC article.
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.
Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: battini r. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211
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: battini r. PLoS One. 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019. PLoS One. 2019. PMID: 31237898 Free PMC article.
318 results