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Page 1
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. Among authors: bushby k. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Poppe M, et al. Among authors: bushby k. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
Nonmolecular treatment for muscular dystrophies.
Bushby K, Straub V. Bushby K, et al. Curr Opin Neurol. 2005 Oct;18(5):511-8. doi: 10.1097/01.wco.0000181326.86292.aa. Curr Opin Neurol. 2005. PMID: 16155433 Review.
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice.
von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M, Oberndorfer F, Anderson LV, Straub V, Bittner RE, Bushby KM. von der Hagen M, et al. Neuromuscul Disord. 2005 Dec;15(12):863-77. doi: 10.1016/j.nmd.2005.09.002. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288871
The childhood limb-girdle muscular dystrophies.
Straub V, Bushby K. Straub V, et al. Among authors: bushby k. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006. Semin Pediatr Neurol. 2006. PMID: 17027860 Review.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Among authors: bushby k. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.
362 results