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

Year Number of Results
2002 3
2004 3
2006 2
2007 2
2008 2
2009 1
2011 2
2012 2
2013 1
2014 6
2015 4
2016 2
2017 2
2018 5
2019 3
2020 2
2021 3
2022 2
2023 3
2024 3

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45 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.
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
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.
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.
45 results