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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: laing ng. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
Autosomal dominant distal myopathy: linkage to chromosome 14.
Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA. Laing NG, et al. Among authors: laing ba. Am J Hum Genet. 1995 Feb;56(2):422-7. Am J Hum Genet. 1995. PMID: 7847377 Free PMC article.
Investigation of muscle disease.
Mastaglia FL, Laing NG. Mastaglia FL, et al. Among authors: laing ng. J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. doi: 10.1136/jnnp.60.3.256. J Neurol Neurosurg Psychiatry. 1996. PMID: 8609501 Free PMC article. Review. No abstract available.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: laing ng. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519
Distal myopathies: clinical and molecular diagnosis and classification.
Mastaglia FL, Laing NG. Mastaglia FL, et al. Among authors: laing ng. J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):703-7. doi: 10.1136/jnnp.67.6.703. J Neurol Neurosurg Psychiatry. 1999. PMID: 10567481 Free PMC article. Review. No abstract available.
Inherited skeletal muscle disorders.
Laing NG, Mastaglia FL. Laing NG, et al. Ann Hum Biol. 1999 Nov-Dec;26(6):507-25. doi: 10.1080/030144699282435. Ann Hum Biol. 1999. PMID: 10612262 Review.
340 results