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A Cross-Sectional Study of Nemaline Myopathy.
Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ. Amburgey K, et al. Among authors: bonnemann cg. Neurology. 2021 Mar 9;96(10):e1425-e1436. doi: 10.1212/WNL.0000000000011458. Epub 2021 Jan 4. Neurology. 2021. PMID: 33397769 Free PMC article.
Zebrafish models of collagen VI-related myopathies.
Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Telfer WR, et al. Among authors: bonnemann cg. Hum Mol Genet. 2010 Jun 15;19(12):2433-44. doi: 10.1093/hmg/ddq126. Epub 2010 Mar 25. Hum Mol Genet. 2010. PMID: 20338942 Free PMC article.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: bonnemann cg. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
Congenital myopathies: an update.
Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Nance JR, et al. Among authors: bonnemann cg. Curr Neurol Neurosci Rep. 2012 Apr;12(2):165-74. doi: 10.1007/s11910-012-0255-x. Curr Neurol Neurosci Rep. 2012. PMID: 22392505 Free PMC article. Review.
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Amburgey K, et al. Among authors: bonnemann cg. Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. Orphanet J Rare Dis. 2013. PMID: 23919265 Free PMC article.
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
Donkervoort S, Schindler A, Tesi-Rocha C, Schreiber A, Leach ME, Dastgir J, Hu Y, Mankodi A, Wagner KR, Friedman NR, Bönnemann CG. Donkervoort S, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2013 Dec;23(12):955-61. doi: 10.1016/j.nmd.2013.08.003. Epub 2013 Aug 11. Neuromuscul Disord. 2013. PMID: 24070816 Free PMC article.
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
344 results