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358 results

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Page 1
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.
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.
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.
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.
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.
Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG. Vuillerot C, et al. Among authors: bonnemann cg. Arch Phys Med Rehabil. 2014 Nov;95(11):2064-2070.e1. doi: 10.1016/j.apmr.2014.05.003. Epub 2014 May 24. Arch Phys Med Rehabil. 2014. PMID: 24862765 Free PMC article.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG. Donkervoort S, et al. Among authors: bonnemann cg. Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691. Hum Mutat. 2015. PMID: 25204870 Free PMC article.
358 results