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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: fortunato f. J Neurol. 2011 Sep;258(9):1610-23. doi: 10.1007/s00415-011-5979-z. Epub 2011 Mar 12. J Neurol. 2011. PMID: 21399986
Muscle glucose-6-phosphate dehydrogenase deficiency.
Bresolin N, Bet L, Moggio M, Meola G, Fortunato F, Comi G, Adobbati L, Geremia L, Pittalis S, Scarlato G. Bresolin N, et al. Among authors: fortunato f. J Neurol. 1989 May;236(4):193-8. doi: 10.1007/BF00314498. J Neurol. 1989. PMID: 2760630
Utrophin expression during human fetal development.
Rigoletto C, Prelle A, Ciscato P, Moggio M, Comi G, Fortunato F, Scarlato G. Rigoletto C, et al. Among authors: fortunato f. Int J Dev Neurosci. 1995 Oct;13(6):585-93. doi: 10.1016/0736-5748(95)00039-j. Int J Dev Neurosci. 1995. PMID: 8553893
A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.
Comi GP, Ciafaloni E, de Silva HA, Prelle A, Bardoni A, Rigoletto C, Robotti M, Bresolin N, Moggio M, Fortunato F. Comi GP, et al. Among authors: fortunato f. Hum Mol Genet. 1995 Nov;4(11):2171-4. doi: 10.1093/hmg/4.11.2171. Hum Mol Genet. 1995. PMID: 8589698 No abstract available.
366 results