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343 results

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Page 1
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.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: bonnemann cg. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 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.
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Soltanzadeh P, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13. Neuromuscul Disord. 2010. PMID: 20630757 Free PMC article.
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. Waddell LB, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17. Neuromuscul Disord. 2011. PMID: 21683594 Free PMC article.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: bonnemann cg. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 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.
343 results