Bertini E - Search Results

1

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

Bertini E, Pepe G. Bertini E, et al. Eur J Paediatr Neurol. 2002;6(4):193-8. doi: 10.1053/ejpn.2002.0593. Eur J Paediatr Neurol. 2002. PMID: 12374585 Review. No abstract available.

2

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P. Mirabella M, et al. Among authors: bertini e. Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342. Neurology. 1993. PMID: 8232953

3

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

Mirabella M, Galluzzi G, Manfredi G, Bertini E, Ricci E, De Leo R, Tonali P, Servidei S. Mirabella M, et al. Among authors: bertini e. Neurology. 1998 Aug;51(2):592-5. doi: 10.1212/wnl.51.2.592. Neurology. 1998. PMID: 9710043

4

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

5

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

6

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.

Bertini E, Sabatelli M, Di Capua M, Cilio MR, Mignogna T, Federico A, Tonali P. Bertini E, et al. Eur J Paediatr Neurol. 1998;2(5):245-54. doi: 10.1016/s1090-3798(98)80038-x. Eur J Paediatr Neurol. 1998. PMID: 10726827 Review.

7

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.

8

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

9

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.

10

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM. Patrono C, et al. Among authors: bertini e. J Neurol. 2002 Feb;249(2):200-5. doi: 10.1007/pl00007865. J Neurol. 2002. PMID: 11985387

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