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Results: 1-7 |
Results: 7
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
Authors: Gellera, C Castellotti, B Riggio, MC Silani, V Morandi, L Testa, D Casali, C Taroni, F Di Donato, S Zeviani, M Mariotti, C
Citation: C. Gellera et al., Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations, NEUROMUSC D, 11(4), 2001, pp. 404-410
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families
Authors: Mariotti, C Castellotti, B Pareyson, D Testa, D Eoli, M Antozzi, C Silani, V Marconi, R Tezzon, F Siciliano, G Marchini, C Gellera, C Di Donato, S
Citation: C. Mariotti et al., Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families, NEUROMUSC D, 10(6), 2000, pp. 391-397
Family and molecular data for a fine analysis of age at onset in Huntington disease
Authors: Squitieri, F Sabbadini, G Mandich, P Gellera, C Di Maria, E Bellone, E Castellotti, B Nargi, E de Grazia, U Frontali, M Novelletto, A
Citation: F. Squitieri et al., Family and molecular data for a fine analysis of age at onset in Huntington disease, AM J MED G, 95(4), 2000, pp. 366-373
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis
Authors: Squitieri, F Berardelli, A Nargi, E Castellotti, B Mariotti, C Cannella, M Lavitrano, ML de Grazia, U Gellera, C Ruggieri, S
Citation: F. Squitieri et al., Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis, CLIN GENET, 58(1), 2000, pp. 50-56
Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
Authors: Pareyson, D Gellera, C Castellotti, B Antonelli, A Riggio, MC Mazzucchelli, F Girotti, F Pietrini, V Mariotti, C Di Donato, S
Citation: D. Pareyson et al., Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes, J NEUROL, 246(5), 1999, pp. 389-393
Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia
Authors: Pietrini, V Godani, M Calzetti, S Negrotti, A Castellotti, B Riggio, MC Toffoli, C
Citation: V. Pietrini et al., Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia, ITAL J NEUR, 19(6), 1998, pp. 345-350
Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy
Authors: Villani, F Gellera, C Spreafico, R Castellotti, B Casazza, M Carrara, F Avanzini, G
Citation: F. Villani et al., Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy, ACT NEUR SC, 98(5), 1998, pp. 324-327
Risultati: 1-7 |