Bertini E - Search Results

1

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.

Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML. Pepe G, et al. Among authors: bertini e. Biochem Biophys Res Commun. 1999 May 19;258(3):802-7. doi: 10.1006/bbrc.1999.0680. Biochem Biophys Res Commun. 1999. PMID: 10329467

2

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: bertini e. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

3

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

4

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.

5

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Camacho Vanegas O, et al. Among authors: bertini e. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. doi: 10.1073/pnas.121027598. Epub 2001 May 29. Proc Natl Acad Sci U S A. 2001. PMID: 11381124 Free PMC article.

6

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts.

Sabatelli P, Bonaldo P, Lattanzi G, Braghetta P, Bergamin N, Capanni C, Mattioli E, Columbaro M, Ognibene A, Pepe G, Bertini E, Merlini L, Maraldi NM, Squarzoni S. Sabatelli P, et al. Among authors: bertini e. Matrix Biol. 2001 Nov;20(7):475-86. doi: 10.1016/s0945-053x(01)00160-3. Matrix Biol. 2001. PMID: 11691587

7

Glutathione in blood of patients with Friedreich's ataxia.

Piemonte F, Pastore A, Tozzi G, Tagliacozzi D, Santorelli FM, Carrozzo R, Casali C, Damiano M, Federici G, Bertini E. Piemonte F, et al. Among authors: bertini e. Eur J Clin Invest. 2001 Nov;31(11):1007-11. doi: 10.1046/j.1365-2362.2001.00922.x. Eur J Clin Invest. 2001. PMID: 11737244

8

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

Pepe G, de Visser M, Bertini E, Bushby K, Vanegas OC, Chu ML, Lattanzi G, Merlini L, Muntoni F, Urtizberea A. Pepe G, et al. Among authors: bertini e. Neuromuscul Disord. 2002 Mar;12(3):296-305. doi: 10.1016/s0960-8966(01)00275-9. Neuromuscul Disord. 2002. PMID: 11801404 No abstract available.

9

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.

10

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjects.

Gaeta LM, Tozzi G, Pastore A, Federici G, Bertini E, Piemonte F. Gaeta LM, et al. Among authors: bertini e. Clin Chim Acta. 2002 Aug;322(1-2):117-20. doi: 10.1016/s0009-8981(02)00163-8. Clin Chim Acta. 2002. PMID: 12104090

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