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Page 1
Correlation between clinical and molecular features in two MELAS families.
Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C. Martinuzzi A, et al. Among authors: ciafaloni e. J Neurol Sci. 1992 Dec;113(2):222-9. doi: 10.1016/0022-510x(92)90250-o. J Neurol Sci. 1992. PMID: 1487758
MELAS: clinical features, biochemistry, and molecular genetics.
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140
Maternally inherited Leigh syndrome.
Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Ciafaloni E, et al. J Pediatr. 1993 Mar;122(3):419-22. doi: 10.1016/s0022-3476(05)83431-6. J Pediatr. 1993. PMID: 8095070
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: ciafaloni e. 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.
130 results