Your search returned 4 results.

Results
	1.	First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. [electronic resource] by Valenti, Raffaella Bianchi, Silvia Pescini, Francesca D'Eramo, Camilla Inzitari, Domenico Dotti, Maria Teresa Pantoni, Leonardo Producer: 20120622 In: Journal of neurology vol. 258 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. [electronic resource] by Gallus, Gian Nicola Cardaioli, Elena Rufa, Alessandra Da Pozzo, Paola Bianchi, Silvia D'Eramo, Camilla Collura, Michele Tumino, Manuela Pavone, Lorenzo Federico, Antonio Producer: 20100310 In: Molecular vision vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	3.	An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. [electronic resource] by Dotti, Maria Teresa Buccoliero, Rosaria Lee, Andrew Gorospe, J Raphael Flint, Daniel Galluzzi, Paolo Bianchi, Silvia D'Eramo, Camilla Naidu, Sakkubai Federico, Antonio Brenner, Michael Producer: 20090820 In: Journal of neurology vol. 256 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL. [electronic resource] by Bianchi, Silvia Dotti, Maria Teresa Gallus, Gian Nicola D'Eramo, Camilla Di Donato, Ilaria Bernardi, Livia Maletta, Raffaele Puccio, Gianfranco Bruni, Amalia C Federico, Antonio Producer: 20140117 In: Neurobiology of aging vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)