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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, Comi GP. Magri F, et al. Among authors: fortunato f. Acta Myol. 2020 Jun 1;39(2):67-82. doi: 10.36185/2532-1900-009. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904964 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.
367 results