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Peripheral neuropathy in CADASIL.
Sicurelli F, Dotti MT, De Stefano N, Malandrini A, Mondelli M, Bianchi S, Federico A. Sicurelli F, et al. Among authors: federico a. J Neurol. 2005 Oct;252(10):1206-9. doi: 10.1007/s00415-005-0837-5. Epub 2005 Apr 15. J Neurol. 2005. PMID: 15827866
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM. Petruzzella V, et al. Among authors: federico a. Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. doi: 10.1016/j.bbrc.2007.01.140. Epub 2007 Feb 2. Biochem Biophys Res Commun. 2007. PMID: 17292333
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: federico a. J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. J Neurol. 2015. PMID: 26566910 No abstract available.
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: federico a. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.
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: federico a. Eur J Neurol. 2010 Oct;17(10):1259-62. doi: 10.1111/j.1468-1331.2010.03002.x. Eur J Neurol. 2010. PMID: 20402754
1,138 results