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Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D. Magri F, et al. Among authors: fortunato f. Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8. Skelet Muscle. 2022. PMID: 36175989 Free PMC article. Review.
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.
An atypical case of partial merosin deficiency congenital muscular dystrophy.
Prelle A, Comi GP, Rigoletto C, Turconi A, Felisari G, Ciscato P, Fortunato F, Messina S, Bresolin N, Mora M, Moggio M, Scarlato G. Prelle A, et al. Among authors: fortunato f. J Neurol. 1997 Jun;244(6):391-5. doi: 10.1007/s004150050110. J Neurol. 1997. PMID: 9249628 No abstract available.
Sarcoglycan deficiency in a large Italian population of myopathic patients.
Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Prelle A, et al. Among authors: fortunato f. Acta Neuropathol. 1998 Nov;96(5):509-14. doi: 10.1007/s004010050926. Acta Neuropathol. 1998. PMID: 9829815
363 results