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930 results

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Page 1
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.
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
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: bertini e. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414
OXPHOS and mtDNA alterations in a family with spastic paraparesis.
Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: bertini e. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522
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.
Respiratory chain defects in hereditary spastic paraplegias.
Piemonte F, Casali C, Carrozzo R, Schägger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM. Piemonte F, et al. Among authors: bertini e. Neuromuscul Disord. 2001 Sep;11(6-7):565-9. doi: 10.1016/s0960-8966(01)00214-0. Neuromuscul Disord. 2001. PMID: 11525886
930 results