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SELECTED PUBLICATIONS

Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston S, Tanzi R, Halperin JJ, Herzfeldt B, Van den Berg R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella J, Horvitz HR, Brown Jr RH. 1993. Mutations in the gene encoding Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature362:59-62. [NCBI PubMed Entry] [IF 31.0]

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, Haan E. 1995. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nature Genetics9:75-79. [NCBI PubMed Entry] [IF 26.5]

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Muller CR, Nurnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. 1999. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics 23:208-12. [NCBI PubMed Entry] [IF 30.7]

Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt G, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun H-S, Laing N, Tinschert S. 2001. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene result in craniometaphyseal dysplasia. Nature Genetics 28:37-41.[NCBI PubMed Entry] [IF 26.5]

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. 2004. Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1). Am J Hum Genet 75:703-8. [NCBI PubMed Entry] [IF 11.6]

Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clement S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. 2009. Rescue of skeletal muscle {alpha}-actin-null mice by cardiac (fetal) {alpha}-actin. The Journal of cell biology 185:903-915. [NCBI PubMed Entry] [IF 9.6]

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. 2013. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American Journal of Human Genetics 93(1):6-18. [NCBI PubMed Entry] [IF 11.2]

Agrawal, P. B., C. R. Pierson, M. Joshi, X. Liu, G. Ravenscroft, B. Moghadaszadeh, T. Talabere, M. Viola, L. C. Swanson, G. Haliloglu, B. Talim, K. S. Yau, R. J. Allcock, N. G. Laing, M. A. Perrella and A. H. Beggs (2014). “SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy.” Am J Hum Genet 95(2): 218-226. http://www.ncbi.nlm.nih.gov/pubmed/25087613 [IF 10.9]

Ravenscroft, G., F. Nolent, S. Rajagopalan, A. M. Meireles, K. J. Paavola, D. Gaillard, E. Alanio, M. Buckland, S. Arbuckle, M. Krivanek, J. Maluenda, S. Pannell, R. Gooding, R. W. Ong, R. J. Allcock, E. D. Carvalho, M. D. Carvalho, F. Kok, W. S. Talbot, J. Melki and N. G. Laing (2015). “Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita.” Am J Hum Genet 96(6): 955-961. [NCBI PubMed Entry] [IF 10.9]

Guimier, A., C. T. Gordon, F. Godard, G. Ravenscroft, M. Oufadem, C. Vasnier, C. Rambaud, P. Nitschke, C. Bole-Feysot, C. Masson, S. Dauger, C. Longman, N. G. Laing, B. Kugener, D. Bonnet, P. Bouvagnet, S. Di Filippo, V. Probst, R. Redon, P. Charron, A. Rotig, S. Lyonnet, A. Dautant, L. de Pontual, J. P. di Rago, A. Delahodde and J. Amiel (2016). “Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.” Am J Hum Genet 99(3): 666-673. http://www.ncbi.nlm.nih.gov/pubmed/27523598 [IF 10.7]

Ong, R., D. Howting, A. Rea, H. Christian, P. Charman, C. Molster, G. Ravenscroft and N. G. Laing (2018). “Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.” J Med Genet 55(11): 744-752. https://www.ncbi.nlm.nih.gov/pubmed/30068663 [IF 5.7]

Ravenscroft, G., I. T. Zaharieva, C. A. Bortolotti, M. Lambrughi, M. Pignataro, M. Borsari, C. A. Sewry, R. Phadke, G. Haliloglu, R. Ong, H. Goullee, T. Whyte, U. K. Consortium, A. Manzur, B. Talim, U. Kaya, D. P. S. Osborn, A. R. R. Forrest, N. G. Laing and F. Muntoni (2018). “Bi-allelic mutations in MYL1 cause a severe congenital myopathy.” Hum Mol Genet 27(24): 4263-4272.