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Page 1
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Lassuthova P, et al. Among authors: lamont pj. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. Am J Hum Genet. 2018. PMID: 29499166 Free PMC article.
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG. Davis MR, et al. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Meredith C, et al. Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322983 Free PMC article.
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG. Mastaglia FL, et al. Among authors: lamont pj. Curr Opin Neurol. 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. Curr Opin Neurol. 2005. PMID: 16155432 Review.
Congenital myopathies.
Laing NG, Sewry CA, Lamont P. Laing NG, et al. Handb Clin Neurol. 2007;86:1-33. doi: 10.1016/S0072-9752(07)86001-5. Handb Clin Neurol. 2007. PMID: 18808993 No abstract available.
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. 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: lamont pj. 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.
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
70 results