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93 results

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Page 1
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.
Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A. Malaguti MC, et al. Among authors: bonato s. Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. Parkinsonism Relat Disord. 2015. PMID: 25601130 No abstract available.
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP. Cagliani R, et al. Among authors: bonato s. Neurology. 2003 Dec 9;61(11):1513-9. doi: 10.1212/01.wnl.0000097320.35982.03. Neurology. 2003. PMID: 14663034
Nuclear reprogramming and adult stem cell potential.
Corti S, Locatelli F, Papadimitriou D, Strazzer S, Bonato S, Comi GP. Corti S, et al. Among authors: bonato s. Histol Histopathol. 2005 Jul;20(3):977-86. doi: 10.14670/HH-20.977. Histol Histopathol. 2005. PMID: 15944948 Review.
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT. Crippa F, et al. Among authors: bonato s. Arch Neurol. 2006 May;63(5):750-5. doi: 10.1001/archneur.63.5.750. Arch Neurol. 2006. PMID: 16682546
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: bonato s. J Neurol. 2011 Sep;258(9):1610-23. doi: 10.1007/s00415-011-5979-z. Epub 2011 Mar 12. J Neurol. 2011. PMID: 21399986
Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.
Romei M, D'Angelo MG, LoMauro A, Gandossini S, Bonato S, Brighina E, Marchi E, Comi GP, Turconi AC, Pedotti A, Bresolin N, Aliverti A. Romei M, et al. Among authors: bonato s. Respir Med. 2012 Feb;106(2):276-83. doi: 10.1016/j.rmed.2011.10.010. Epub 2011 Nov 13. Respir Med. 2012. PMID: 22083092 Free article.
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: bonato s. Neuromuscul Disord. 2012 Nov;22(11):934-43. doi: 10.1016/j.nmd.2012.05.001. Epub 2012 Jun 27. Neuromuscul Disord. 2012. PMID: 22742934 Free PMC article.
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.
Di Bella D, Pareyson D, Savoiardo M, Farina L, Ciano C, Caldarazzo S, Sagnelli A, Bonato S, Nava S, Bresolin N, Tedeschi G, Taroni F, Salsano E. Di Bella D, et al. Among authors: bonato s. Neurology. 2014 Sep 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15. Neurology. 2014. PMID: 25128180 Free article. No abstract available.
93 results