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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. Donkervoort S, et al. Among authors: bonnemann cg. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. EMBO Mol Med. 2021. PMID: 34779586 Free PMC article.
Autosomal recessive inheritance of classic Bethlem myopathy.
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bönnemann CG. Foley AR, et al. Among authors: bonnemann cg. Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1. Neuromuscul Disord. 2009. PMID: 19884007 Free PMC article.
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin LK, Spinner N, Shaikh TH, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder TL, Bönnemann CG. Foley AR, et al. Among authors: bonnemann cg. Ann Neurol. 2011 Jan;69(1):206-11. doi: 10.1002/ana.22283. Ann Neurol. 2011. PMID: 21280092 Free PMC article.
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG. Butterfield RJ, et al. Among authors: bonnemann cg. Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429. Hum Mutat. 2013. PMID: 24038877 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.
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.
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.
343 results