North KN - Search Results

1

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

Houweling PJ, Coles CA, Tiong CF, Nielsen B, Graham A, McDonald P, Suter A, Piers AT, Forbes R, Ryan MM, Howden SE, Lamandé SR, North KN. Houweling PJ, et al. Among authors: north kn. Stem Cell Res. 2021 Jul;54:102429. doi: 10.1016/j.scr.2021.102429. Epub 2021 Jun 17. Stem Cell Res. 2021. PMID: 34157503 Free article.

2

Dietary L-tyrosine supplementation in nemaline myopathy.

Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN. Ryan MM, et al. Among authors: north kn. J Child Neurol. 2008 Jun;23(6):609-13. doi: 10.1177/0883073807309794. Epub 2007 Dec 13. J Child Neurol. 2008. PMID: 18079309

3

Activating internal ribosome entry to treat Duchenne muscular dystrophy.

Lamandé SR, North KN. Lamandé SR, et al. Among authors: north kn. Nat Med. 2014 Sep;20(9):987-8. doi: 10.1038/nm.3677. Nat Med. 2014. PMID: 25198047

4

Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

Bozaoglu K, Shern Lee W, Haebich KM, North KN, Payne JM, Lockhart PJ. Bozaoglu K, et al. Among authors: north kn. Stem Cell Res. 2020 Dec;49:102013. doi: 10.1016/j.scr.2020.102013. Epub 2020 Oct 1. Stem Cell Res. 2020. PMID: 33091851 Free article.

5

Nemaline myopathy: a clinical study of 143 cases.

Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Ryan MM, et al. Among authors: north kn. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Ann Neurol. 2001. PMID: 11558787 Review.

6

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.

Kiriaev L, Houweling PJ, North KN, Head SI. Kiriaev L, et al. Among authors: north kn. Hum Mol Genet. 2022 May 4;31(9):1417-1429. doi: 10.1093/hmg/ddab326. Hum Mol Genet. 2022. PMID: 34761268 Free PMC article.

7

Sequence analysis of the equine ACTN3 gene in Australian horse breeds.

Thomas KC, Hamilton NA, North KN, Houweling PJ. Thomas KC, et al. Among authors: north kn. Gene. 2014 Mar 15;538(1):88-93. doi: 10.1016/j.gene.2014.01.014. Epub 2014 Jan 15. Gene. 2014. PMID: 24440781

8

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

Lee FX, Houweling PJ, North KN, Quinlan KG. Lee FX, et al. Among authors: north kn. Biochim Biophys Acta. 2016 Apr;1863(4):686-93. doi: 10.1016/j.bbamcr.2016.01.013. Epub 2016 Jan 21. Biochim Biophys Acta. 2016. PMID: 26802899 Free article. Review.

9

Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?

Bray P, Bundy AC, Ryan MM, North KN. Bray P, et al. Among authors: north kn. Qual Life Res. 2017 May;26(5):1145-1152. doi: 10.1007/s11136-016-1442-z. Epub 2016 Nov 3. Qual Life Res. 2017. PMID: 27812849

10

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone.

Seto JT, Roeszler KN, Meehan LR, Wood HD, Tiong C, Bek L, Lee SF, Shah M, Quinlan KGR, Gregorevic P, Houweling PJ, North KN. Seto JT, et al. Among authors: north kn. Sci Adv. 2021 Jul 2;7(27):eabg0088. doi: 10.1126/sciadv.abg0088. Print 2021 Jul. Sci Adv. 2021. PMID: 34215586 Free PMC article.

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