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Page 1
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: bresolin n. Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11. Neurogenetics. 2010. PMID: 19593598
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT. Vantaggiato C, et al. Among authors: bresolin n. Brain Dev. 2014 Sep;36(8):682-9. doi: 10.1016/j.braindev.2013.10.003. Epub 2013 Oct 31. Brain Dev. 2014. PMID: 24183476
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT. Arnoldi A, et al. Among authors: bresolin n. Hum Mutat. 2008 Apr;29(4):522-31. doi: 10.1002/humu.20682. Hum Mutat. 2008. PMID: 18200586
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: bresolin n. Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11. Brain. 2013. PMID: 24030950 Free PMC article.
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M. Bassi MT, et al. Among authors: bresolin n. Neurogenetics. 2005 Dec;6(4):185-93. doi: 10.1007/s10048-005-0012-2. Epub 2005 Oct 19. Neurogenetics. 2005. PMID: 16235065 Free article.
594 results