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1,186 results

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Page 1
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: federico a. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707
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.
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: federico a. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
Physiology and pathology of notch signalling system.
Bianchi S, Dotti MT, Federico A. Bianchi S, et al. Among authors: federico a. J Cell Physiol. 2006 May;207(2):300-8. doi: 10.1002/jcp.20542. J Cell Physiol. 2006. PMID: 16270334 Review.
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: federico a. J Neurol Sci. 2009 Feb 15;277(1-2):22-5. doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13. J Neurol Sci. 2009. PMID: 19084844
Hereditary spastic paraplegia type 11 with a very late onset.
Rubegni A, Storti E, Tessa A, Federico A, Santorelli FM. Rubegni A, et al. Among authors: federico a. J Neurol. 2015 Aug;262(8):1987-9. doi: 10.1007/s00415-015-7854-9. Epub 2015 Jul 17. J Neurol. 2015. PMID: 26183056 No abstract available.
1,186 results