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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: taylor rl. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free 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: taylor rl. 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
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. 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.
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: taylor rl. 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.
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: taylor rl. 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.
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: taylor rl. Stem Cell Res. 2021 May;53:102273. doi: 10.1016/j.scr.2021.102273. Epub 2021 Feb 26. Stem Cell Res. 2021. PMID: 33740643 Free article.
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.
Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: taylor rl. Stem Cell Res. 2021 Aug;55:102482. doi: 10.1016/j.scr.2021.102482. Epub 2021 Jul 29. Stem Cell Res. 2021. PMID: 34388489 Free article.
450 results