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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 3
1993 2
1994 1
1995 4
1996 4
1997 1
1998 3
1999 4
2001 5
2002 3
2004 3
2006 3
2007 2
2008 2
2009 2
2011 2
2012 3
2013 2
2014 6
2015 5
2016 2
2017 2
2018 5
2019 3
2020 2
2021 3
2022 2
2023 6
2024 3
2025 0

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79 results

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Page 1
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: pelin k. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
China's public health initiatives for climate change adaptation.
Ji JS, Xia Y, Liu L, Zhou W, Chen R, Dong G, Hu Q, Jiang J, Kan H, Li T, Li Y, Liu Q, Liu Y, Long Y, Lv Y, Ma J, Ma Y, Pelin K, Shi X, Tong S, Xie Y, Xu L, Yuan C, Zeng H, Zhao B, Zheng G, Liang W, Chan M, Huang C. Ji JS, et al. Among authors: pelin k. Lancet Reg Health West Pac. 2023 Nov 15;40:100965. doi: 10.1016/j.lanwpc.2023.100965. eCollection 2023 Nov. Lancet Reg Health West Pac. 2023. PMID: 38116500 Free PMC article. Review.
Update on the Genetics of Congenital Myopathies.
Pelin K, Wallgren-Pettersson C. Pelin K, et al. Semin Pediatr Neurol. 2019 Apr;29:12-22. doi: 10.1016/j.spen.2019.01.005. Epub 2019 Jan 17. Semin Pediatr Neurol. 2019. PMID: 31060721 Review.
Nebulin--a giant chameleon.
Pelin K, Wallgren-Pettersson C. Pelin K, et al. Adv Exp Med Biol. 2008;642:28-39. Adv Exp Med Biol. 2008. PMID: 19181091
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Wallgren-Pettersson C, Jokela M, Lehtokari VL, Tyynismaa H, Sainio MT, Ylikallio E, Tynninen O, Pelin K, Auranen M. Wallgren-Pettersson C, et al. Among authors: pelin k. Neuromuscul Disord. 2024 Feb;35:29-32. doi: 10.1016/j.nmd.2023.12.006. Epub 2023 Dec 15. Neuromuscul Disord. 2024. PMID: 38219297 Free article.
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: pelin k. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J. Lehtonen J, et al. Among authors: pelin k. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. Sci Rep. 2024. PMID: 38383731 Free PMC article.
79 results