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Page 1
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR. Baker NL, et al. Among authors: kornberg aj. Ann Neurol. 2007 Oct;62(4):390-405. doi: 10.1002/ana.21213. Ann Neurol. 2007. PMID: 17886299
Paroxysmal tonic upgaze: a reappraisal of outcome.
Hayman M, Harvey AS, Hopkins IJ, Kornberg AJ, Coleman LT, Shield LK. Hayman M, et al. Among authors: kornberg aj. Ann Neurol. 1998 Apr;43(4):514-20. doi: 10.1002/ana.410430416. Ann Neurol. 1998. PMID: 9546334
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN. Ilkovski B, et al. Among authors: kornberg aj. Am J Hum Genet. 2001 Jun;68(6):1333-43. doi: 10.1086/320605. Epub 2001 Apr 27. Am J Hum Genet. 2001. PMID: 11333380 Free PMC article.
Dietary L-tyrosine supplementation in nemaline myopathy.
Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN. Ryan MM, et al. Among authors: kornberg aj. J Child Neurol. 2008 Jun;23(6):609-13. doi: 10.1177/0883073807309794. Epub 2007 Dec 13. J Child Neurol. 2008. PMID: 18079309
Duchenne muscular dystrophy.
Yiu EM, Kornberg AJ. Yiu EM, et al. Among authors: kornberg aj. Neurol India. 2008 Jul-Sep;56(3):236-47. doi: 10.4103/0028-3886.43441. Neurol India. 2008. PMID: 18974549 Free article. Review.
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Clarke NF, et al. Among authors: kornberg aj. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278. Hum Mutat. 2010. PMID: 20583297
129 results