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Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D. Zanotti S, et al. Among authors: fortunato f. Int J Mol Sci. 2023 Mar 14;24(6):5551. doi: 10.3390/ijms24065551. Int J Mol Sci. 2023. PMID: 36982625 Free PMC article.
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
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G. Hadjigeorgiou GM, et al. Among authors: fortunato f. J Inherit Metab Dis. 1999 Aug;22(6):762-3. doi: 10.1023/a:1005572906807. J Inherit Metab Dis. 1999. PMID: 10472540 No abstract available.
394 results