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Page 1
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: crimella c. 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: crimella c. Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11. Brain. 2013. PMID: 24030950 Free PMC article.
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'Angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT. Crimella C, et al. J Med Genet. 2009 May;46(5):345-51. doi: 10.1136/jmg.2008.063321. Epub 2009 Feb 5. J Med Genet. 2009. PMID: 19196735
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: crimella c. Neurogenetics. 2010 Feb;11(1):91-100. doi: 10.1007/s10048-009-0206-0. Epub 2009 Jul 11. Neurogenetics. 2010. PMID: 19593598
12 results