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Page 1
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
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT. Airoldi G, et al. Among authors: bonato s. Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11. Neurogenetics. 2010. PMID: 19593598
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.
Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Vantaggiato C, et al. Among authors: bonato s. Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11. Brain. 2013. PMID: 24030950 Free PMC article.
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
Respiratory pattern in an adult population of dystrophic patients.
D'Angelo MG, Romei M, Lo Mauro A, Marchi E, Gandossini S, Bonato S, Comi GP, Magri F, Turconi AC, Pedotti A, Bresolin N, Aliverti A. D'Angelo MG, et al. Among authors: bonato s. J Neurol Sci. 2011 Jul 15;306(1-2):54-61. doi: 10.1016/j.jns.2011.03.045. Epub 2011 May 6. J Neurol Sci. 2011. PMID: 21529845
Gait pattern in Duchenne muscular dystrophy.
D'Angelo MG, Berti M, Piccinini L, Romei M, Guglieri M, Bonato S, Degrate A, Turconi AC, Bresolin N. D'Angelo MG, et al. Among authors: bonato s. Gait Posture. 2009 Jan;29(1):36-41. doi: 10.1016/j.gaitpost.2008.06.002. Epub 2008 Jul 25. Gait Posture. 2009. PMID: 18656361
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