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Page 1
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G. Todd EJ, et al. Among authors: laing ng. Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0. Orphanet J Rare Dis. 2015. PMID: 26578207 Free PMC article.
Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.
Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ. Boutilier JK, et al. Among authors: laing ng. Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26. Biochim Biophys Acta Gene Regul Mech. 2017. PMID: 28847732
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Nilipour Y, et al. Among authors: laing ng. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29498452
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F. Ravenscroft G, et al. Among authors: laing ng. Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320. Hum Mol Genet. 2018. PMID: 30215711 Free PMC article.
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.
Sedghi M, Moslemi AR, Olive M, Etemadifar M, Ansari B, Nasiri J, Emrahi L, Mianesaz HR, Laing NG, Tajsharghi H. Sedghi M, et al. Among authors: laing ng. Ann Clin Transl Neurol. 2019 Nov;6(11):2197-2204. doi: 10.1002/acn3.50912. Epub 2019 Sep 27. Ann Clin Transl Neurol. 2019. PMID: 31560180 Free PMC article.
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Laitila JM, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths LM, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ. Laitila JM, et al. Among authors: laing ng. Acta Neuropathol Commun. 2020 Feb 17;8(1):18. doi: 10.1186/s40478-020-0893-1. Acta Neuropathol Commun. 2020. PMID: 32066503 Free PMC article.
349 results