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904 results

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Page 1
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: bertini e. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. Pepe G, et al. Among authors: bertini e. Neuromuscul Disord. 1999 Jun;9(4):264-71. doi: 10.1016/s0960-8966(99)00014-0. Neuromuscul Disord. 1999. PMID: 10399756
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Among authors: bertini e. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679
SPG3A: An additional family carrying a new atlastin mutation.
Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM. Tessa A, et al. Among authors: bertini e. Neurology. 2002 Dec 24;59(12):2002-5. doi: 10.1212/01.wnl.0000036902.21438.98. Neurology. 2002. PMID: 12499504
Cerebellar ataxia and coenzyme Q10 deficiency.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: bertini e. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F. Nabbout R, et al. Among authors: bertini e. Neurology. 2003 Jun 24;60(12):1961-7. doi: 10.1212/01.wnl.0000069463.41870.2f. Neurology. 2003. PMID: 12821740
904 results