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Central core disease: clinical, pathological, and genetic features.
Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA. Quinlivan RM, et al. Arch Dis Child. 2003 Dec;88(12):1051-5. doi: 10.1136/adc.88.12.1051. Arch Dis Child. 2003. PMID: 14670767 Free PMC article.
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: davis mr. 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.
Clinical utility gene card for: Laing distal myopathy.
Lamont P, Wallefeld W, Davis M, Udd B, Laing N. Lamont P, et al. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.190. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150886 Free PMC article. No abstract available.
Clinical utility gene card for: nemaline myopathy.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Nowak KJ, et al. Among authors: davis mr. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510848 Free PMC article. No abstract available.
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG. Ravenscroft G, et al. Among authors: davis mr. Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3. Neuromuscul Disord. 2013. PMID: 23218673
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.
Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. Clarke NF, et al. Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9. Neuromuscul Disord. 2013. PMID: 23478172 Free PMC article.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. Ravenscroft G, et al. Among authors: davis mr. Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746549 Free PMC article.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P. Gaignard P, et al. Among authors: davis mr. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910460 Free PMC article.
280 results