Pepe G - Search Results

1

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

Bertini E, Pepe G. Bertini E, et al. Among authors: pepe g. 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

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.

Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Pepe G, et al. Neuromuscul Disord. 2002 Dec;12(10):984-93. doi: 10.1016/s0960-8966(02)00139-6. Neuromuscul Disord. 2002. PMID: 12467756 No abstract available.

3

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Giusti B, et al. Among authors: pepe g. Ann Neurol. 2005 Sep;58(3):400-10. doi: 10.1002/ana.20586. Ann Neurol. 2005. PMID: 16130093

4

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.

Petrini S, D'Amico A, Sale P, Lucarini L, Sabatelli P, Tessa A, Giusti B, Verardo M, Carrozzo R, Mattioli E, Scarpelli M, Chu ML, Pepe G, Russo MA, Bertini E. Petrini S, et al. Among authors: pepe g. Neuromuscul Disord. 2007 Aug;17(8):587-96. doi: 10.1016/j.nmd.2007.04.010. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588753

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: pepe g. 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

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. Neuromuscul Disord. 2002 Mar;12(3):296-305. doi: 10.1016/s0960-8966(01)00275-9. Neuromuscul Disord. 2002. PMID: 11801404 No abstract available.

7

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML. Zhang RZ, et al. Among authors: pepe g. J Biol Chem. 2002 Nov 15;277(46):43557-64. doi: 10.1074/jbc.M207696200. Epub 2002 Sep 5. J Biol Chem. 2002. PMID: 12218063 Free article.

8

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.

Petrini S, Tessa A, Stallcup WB, Sabatelli P, Pescatori M, Giusti B, Carrozzo R, Verardo M, Bergamin N, Columbaro M, Bernardini C, Merlini L, Pepe G, Bonaldo P, Bertini E. Petrini S, et al. Among authors: pepe g. Mol Cell Neurosci. 2005 Nov;30(3):408-17. doi: 10.1016/j.mcn.2005.08.005. Mol Cell Neurosci. 2005. PMID: 16169245

9

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. Biochem Biophys Res Commun. 1999 May 19;258(3):802-7. doi: 10.1006/bbrc.1999.0680. Biochem Biophys Res Commun. 1999. PMID: 10329467

10

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. Neuromuscul Disord. 1999 Jun;9(4):264-71. doi: 10.1016/s0960-8966(99)00014-0. Neuromuscul Disord. 1999. PMID: 10399756

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

840 results

Search Page

Filters