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903 results

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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
Oxidative abnormalities in Menkes disease.
Rizzo C, Bertini E, Piemonte F, Leuzzi V, Sabetta G, Federici G, Luchetti A, Dionisi-Vici C. Rizzo C, et al. Among authors: bertini e. J Inherit Metab Dis. 2000 Jun;23(4):349-51. doi: 10.1023/a:1005675012708. J Inherit Metab Dis. 2000. PMID: 10896291 No abstract available.
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
Antioxidant enzymes in blood of patients with Friedreich's ataxia.
Tozzi G, Nuccetelli M, Lo Bello M, Bernardini S, Bellincampi L, Ballerini S, Gaeta LM, Casali C, Pastore A, Federici G, Bertini E, Piemonte F. Tozzi G, et al. Among authors: bertini e. Arch Dis Child. 2002 May;86(5):376-9. doi: 10.1136/adc.86.5.376. Arch Dis Child. 2002. PMID: 11970939 Free PMC article.
903 results