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CUGC for Duchenne muscular dystrophy (DMD).
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote DJ, et al. Among authors: nowak kj. Eur J Hum Genet. 2018 May;26(5):749-757. doi: 10.1038/s41431-017-0013-2. Epub 2018 Jan 12. Eur J Hum Genet. 2018. PMID: 29330543 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. 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.
Clinical utility gene card for: Nemaline myopathy - update 2015.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Nowak KJ, et al. Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712079 Free PMC article. No abstract available.
Clinical utility gene card for McArdle disease.
Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ. Taylor RL, et al. Among authors: nowak kj. Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25. Eur J Hum Genet. 2018. PMID: 29371640 Free PMC article.
Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote D, et al. Among authors: nowak kj. Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. Eur J Hum Genet. 2018. PMID: 29467387 Free PMC article. No abstract available.
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O'Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ. Clayton JS, et al. Among authors: nowak kj. Acta Neuropathol Commun. 2020 Aug 20;8(1):142. doi: 10.1186/s40478-020-01017-1. Acta Neuropathol Commun. 2020. PMID: 32819427 Free PMC article.
103 results