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Common Data Elements for Muscle Biopsy Reporting.
Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW. Dastgir J, et al. Among authors: bonnemann c. Arch Pathol Lab Med. 2016 Jan;140(1):51-65. doi: 10.5858/arpa.2014-0453-OA. Epub 2015 Jul 1. Arch Pathol Lab Med. 2016. PMID: 26132600 Free PMC article.
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: bonnemann c. 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
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.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: bonnemann cg. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA.
Rutkowski A, Bönnemann C, Brown S, Thorsteinsdóttir S, Dominov J, Ruegg MA, Matter ML, Guttridge D, Crosbie-Watson RH, Kardon G, Nagaraju K, Girgenrath M, Burkin DJ. Rutkowski A, et al. Among authors: bonnemann c. Neuromuscul Disord. 2013 Feb;23(2):188-91. doi: 10.1016/j.nmd.2012.06.353. Epub 2012 Jul 15. Neuromuscul Disord. 2013. PMID: 22800409 Free PMC article.
423 results