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Results: 1-9 |
Results: 9
A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation
Authors: Wu, FF Takahashi, MP Pegoraro, E Angelini, C Colleselli, P Cannon, SC Hoffman, EP
Citation: Ff. Wu et al., A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation, NEUROLOGY, 56(7), 2001, pp. 878-884
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
Authors: Fanin, M Pegoraro, E Matsuda-Asada, C Brown, RH Angelini, C
Citation: M. Fanin et al., Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy, NEUROLOGY, 56(5), 2001, pp. 660-665
Private beta- and gamma-sarcoglycan gene mutations: Evidence of a founder effect in northern Italy
Authors: Fanin, M Hoffman, EP Angelini, C Pegoraro, E
Citation: M. Fanin et al., Private beta- and gamma-sarcoglycan gene mutations: Evidence of a founder effect in northern Italy, HUM MUTAT, 16(1), 2000, pp. 13-17
A novel laminin alpha 2 isoform in severe laminin alpha 2 deficient congenital muscular dystrophy
Authors: Pegoraro, E Fanin, M Trevisan, CP Angelini, C Hoffman, EP
Citation: E. Pegoraro et al., A novel laminin alpha 2 isoform in severe laminin alpha 2 deficient congenital muscular dystrophy, NEUROLOGY, 55(8), 2000, pp. 1128-1134
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
Authors: Korade-Mirnics, Z Tarleton, J Servidei, S Casey, RR Gennarelli, M Pegoraro, E Angelini, C Hoffman, EP
Citation: Z. Korade-mirnics et al., Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression, HUM MOL GEN, 8(6), 1999, pp. 1017-1023
Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy
Authors: Pegoraro, E Fanin, M Angelini, C Hoffman, EP
Citation: E. Pegoraro et al., Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy, NEUROMUSC D, 9(5), 1999, pp. 323-325
MR imaging findings in children with merosin-deficient congenital musculardystrophy
Authors: Caro, PA Scavina, M Hoffman, E Pegoraro, E Marks, HG
Citation: Pa. Caro et al., MR imaging findings in children with merosin-deficient congenital musculardystrophy, AM J NEUROR, 20(2), 1999, pp. 324-326
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
Authors: Murillo, FM Kobayashi, H Pegoraro, E Galluzzi, G Creel, G Mariani, C Farina, E Ricci, E Alfonso, G Pauli, RM Hoffman, EP
Citation: Fm. Murillo et al., Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15, NEUROLOGY, 53(1), 1999, pp. 50-56
Cardiac transplantation in a Duchenne muscular dystrophy carrier
Authors: Melacini, P Fanin, M Angelini, A Pegoraro, E Livi, U Danieli, GA Hoffman, EP Thiene, G Dalla Volta, S Angelini, C
Citation: P. Melacini et al., Cardiac transplantation in a Duchenne muscular dystrophy carrier, NEUROMUSC D, 8(8), 1998, pp. 585-590
Risultati: 1-9 |