Bönnemann CG - Search Results

1

Autosomal recessive inheritance of classic Bethlem myopathy.

Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG. Foley AR, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1. Neuromuscul Disord. 2009. PMID: 19884007 Free PMC article.

2

Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

Bönnemann CG, Wong J, Jones KJ, Lidov HG, Feener CA, Shapiro F, Darras BT, Kunkel LM, North KN. Bönnemann CG, et al. Neuromuscul Disord. 2002 Mar;12(3):273-80. doi: 10.1016/s0960-8966(01)00276-0. Neuromuscul Disord. 2002. PMID: 11801399

3

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML. Pan TC, et al. Among authors: bonnemann cg. Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1. Am J Hum Genet. 2003. PMID: 12840783 Free PMC article.

4

Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

Härtel C, Bachmann S, Bönnemann C, Meinecke P, Sperner J. Härtel C, et al. Clin Dysmorphol. 2005 Jan;14(1):31-34. Clin Dysmorphol. 2005. PMID: 15602091

5

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. Among authors: bonnemann cg. J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754. J Med Genet. 2005. PMID: 15689448 Free PMC article.

6

Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.

Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bönnemann CG. Kirschner J, et al. Among authors: bonnemann cg. Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443. Am J Med Genet A. 2005. PMID: 15690374

7

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

8

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. 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

9

Congenital muscular dystrophies and the extracellular matrix.

Schessl J, Zou Y, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. Semin Pediatr Neurol. 2006 Jun;13(2):80-9. doi: 10.1016/j.spen.2006.06.003. Semin Pediatr Neurol. 2006. PMID: 17027857 Review.

10

MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.

Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, Torigian DA, Jungbluth H, Goebel HH, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2007 Jan;17(1):28-32. doi: 10.1016/j.nmd.2006.09.013. Epub 2006 Nov 28. Neuromuscul Disord. 2007. PMID: 17134899

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