Chu ML - Search Results

1

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

2

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G. Vanegas OC, et al. Among authors: chu ml. Muscle Nerve. 2002 Apr;25(4):513-9. doi: 10.1002/mus.10100. Muscle Nerve. 2002. PMID: 11932968

3

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

4

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: chu ml. 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.

5

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: chu ml. 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.

6

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: chu ml. 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

7

Two promoters control the transcription of the human alpha 2(VI) collagen gene.

Saitta B, Chu ML. Saitta B, et al. Among authors: chu ml. Eur J Biochem. 1994 Jul 15;223(2):675-82. doi: 10.1111/j.1432-1033.1994.tb19040.x. Eur J Biochem. 1994. PMID: 8055937 Free article.

8

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. Pepe G, et al. Among authors: chu ml. Ann Neurol. 2006 Jan;59(1):190-5. doi: 10.1002/ana.20705. Ann Neurol. 2006. PMID: 16278855

9

Human alpha 3(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells.

Stokes DG, Saitta B, Timpl R, Chu ML. Stokes DG, et al. Among authors: chu ml. J Biol Chem. 1991 May 5;266(13):8626-33. J Biol Chem. 1991. PMID: 2022673 Free article.

10

Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters.

Saitta B, Chu ML. Saitta B, et al. Among authors: chu ml. Eur J Biochem. 1995 Dec 1;234(2):542-9. doi: 10.1111/j.1432-1033.1995.542_b.x. Eur J Biochem. 1995. PMID: 8536701 Free article.

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