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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Ricci E, et al. Among authors: galluzzi g. Ann Neurol. 1999 Jun;45(6):751-7. doi: 10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m. Ann Neurol. 1999. PMID: 10360767
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.
Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N, Vigneti E, Ricci E, Servidei S, Merico B, Pachì A, Brambati B, Mangiola F, Tonali P, Felicetti L. Galluzzi G, et al. Neuromuscul Disord. 1999 May;9(3):190-8. doi: 10.1016/s0960-8966(98)00116-3. Neuromuscul Disord. 1999. PMID: 10382915
Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells.
De Angelis FG, Sthandier O, Berarducci B, Toso S, Galluzzi G, Ricci E, Cossu G, Bozzoni I. De Angelis FG, et al. Among authors: galluzzi g. Proc Natl Acad Sci U S A. 2002 Jul 9;99(14):9456-61. doi: 10.1073/pnas.142302299. Epub 2002 Jun 20. Proc Natl Acad Sci U S A. 2002. PMID: 12077324 Free PMC article.
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. Among authors: galluzzi g. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171
Sleep quality in Facioscapulohumeral muscular dystrophy.
Della Marca G, Frusciante R, Vollono C, Dittoni S, Galluzzi G, Buccarella C, Modoni A, Mazza S, Tonali PA, Ricci E. Della Marca G, et al. Among authors: galluzzi g. J Neurol Sci. 2007 Dec 15;263(1-2):49-53. doi: 10.1016/j.jns.2007.05.028. Epub 2007 Jun 26. J Neurol Sci. 2007. PMID: 17597162
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