Lampe AK - Search Results

1

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

2

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.

Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, Sewry CA, Flanigan KM, Bushby K, Muntoni F. Brockington M, et al. Prenat Diagn. 2004 Jun;24(6):440-4. doi: 10.1002/pd.902. Prenat Diagn. 2004. PMID: 15229843

3

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F. Mercuri E, et al. Neuropediatrics. 2004 Aug;35(4):224-9. doi: 10.1055/s-2004-821084. Neuropediatrics. 2004. PMID: 15328561

4

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Lampe AK, et al. J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754. J Med Genet. 2005. PMID: 15689448 Free PMC article.

5

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2005 Apr;15(4):303-10. doi: 10.1016/j.nmd.2005.01.004. Neuromuscul Disord. 2005. PMID: 15792870

6

Collagen VI related muscle disorders.

Lampe AK, Bushby KM. Lampe AK, et al. J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311. J Med Genet. 2005. PMID: 16141002 Free PMC article. Review.

7

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F. Jimenez-Mallebrera C, et al. Among authors: lampe ak. Neuromuscul Disord. 2006 Oct;16(9-10):571-82. doi: 10.1016/j.nmd.2006.07.015. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935502

8

A refined diagnostic algorithm for Bethlem myopathy.

Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. Hicks D, et al. Among authors: lampe ak. Neurology. 2008 Apr 1;70(14):1192-9. doi: 10.1212/01.wnl.0000307749.66438.6d. Neurology. 2008. PMID: 18378883 Clinical Trial.

9

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM. Hicks D, et al. Among authors: lampe ak. Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16. Brain. 2009. PMID: 19015158

10

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.

Allamand V, Merlini L, Bushby K; Consortium for Collagen VI-Related Myopathies. Allamand V, et al. Neuromuscul Disord. 2010 May;20(5):346-54. doi: 10.1016/j.nmd.2010.02.012. Epub 2010 Mar 7. Neuromuscul Disord. 2010. PMID: 20211562 No abstract available.

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