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Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C. Sewry CA, et al. Among authors: laitila jm. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. J Muscle Res Cell Motil. 2019. PMID: 31228046 Free PMC article. Review.
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. 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.
Recent advances in nemaline myopathy.
Laitila J, Wallgren-Pettersson C. Laitila J, et al. Neuromuscul Disord. 2021 Oct;31(10):955-967. doi: 10.1016/j.nmd.2021.07.012. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34561123 Free article. Review.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Ranu N, et al. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. Acta Neuropathol Commun. 2022. PMID: 36528760 Free PMC article.
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