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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A. Pretegiani E, et al. Among authors: da pozzo p. J Neurol Sci. 2017 Nov 15;382:29-35. doi: 10.1016/j.jns.2017.09.018. Epub 2017 Sep 14. J Neurol Sci. 2017. PMID: 29111013
Four novel CYP27A1 mutations in seven Italian patients with CTX.
Gallus GN, Dotti MT, Mignarri A, Rufa A, Da Pozzo P, Cardaioli E, Federico A. Gallus GN, et al. Among authors: da pozzo p. Eur J Neurol. 2010 Oct;17(10):1259-62. doi: 10.1111/j.1468-1331.2010.03002.x. Eur J Neurol. 2010. PMID: 20402754
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: da pozzo p. J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. J Neurol. 2015. PMID: 26566910 No abstract available.
32 results