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Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Stavusis J, et al. Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17. Ann Neurol. 2019. PMID: 31025394 Free PMC article.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network; Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Shashi V, et al. Among authors: wright nt. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5. Hum Mutat. 2019. PMID: 31264822 Free PMC article.
Obscurin is a semi-flexible molecule in solution.
Whitley JA, Ex-Willey AM, Marzolf DR, Ackermann MA, Tongen AL, Kokhan O, Wright NT. Whitley JA, et al. Protein Sci. 2019 Apr;28(4):717-726. doi: 10.1002/pro.3578. Epub 2019 Feb 6. Protein Sci. 2019. PMID: 30666746 Free PMC article.
Structure of giant muscle proteins.
Meyer LC, Wright NT. Meyer LC, et al. Front Physiol. 2013 Dec 12;4:368. doi: 10.3389/fphys.2013.00368. Front Physiol. 2013. PMID: 24376425 Free PMC article. Review.
1,864 results