Bönnemann CG - Search Results

1

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG. Meilleur KG, et al. Among authors: bonnemann cg. J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065. J Neuropathol Exp Neurol. 2014. PMID: 24709677 Free PMC article.

2

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP. McNally EM, et al. Among authors: bonnemann cg. Hum Mol Genet. 1996 Nov;5(11):1841-7. doi: 10.1093/hmg/5.11.1841. Hum Mol Genet. 1996. PMID: 8923014

3

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Bönnemann CG, Finkel RS. Bönnemann CG, et al. Semin Pediatr Neurol. 2002 Jun;9(2):81-99. doi: 10.1053/spen.2002.33795. Semin Pediatr Neurol. 2002. PMID: 12139001 Review.

4

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.

Kirschner J, Bönnemann CG. Kirschner J, et al. Among authors: bonnemann cg. Arch Neurol. 2004 Feb;61(2):189-99. doi: 10.1001/archneur.61.2.189. Arch Neurol. 2004. PMID: 14967765 Review.

5

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.

6

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

7

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.

Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG. Zou Y, et al. Among authors: bonnemann cg. J Neuropathol Exp Neurol. 2008 Feb;67(2):144-54. doi: 10.1097/nen.0b013e3181634ef7. J Neuropathol Exp Neurol. 2008. PMID: 18219255

8

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.

9

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. Among authors: bonnemann cg. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090

10

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

Schessl J, Goemans NM, Magold AI, Zou Y, Hu Y, Kirschner J, Sciot R, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. Muscle Nerve. 2008 Sep;38(3):1184-91. doi: 10.1002/mus.21088. Muscle Nerve. 2008. PMID: 18720506

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