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Page 1
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL. Sagath L, et al. Among authors: wallgren pettersson c. medRxiv [Preprint]. 2024 Oct 4:2024.10.04.24313542. doi: 10.1101/2024.10.04.24313542. medRxiv. 2024. PMID: 39802796 Free PMC article. Preprint.
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.
van Kleef ESB, van de Camp SAJH, Groothuis JT, Erasmus CE, Gaytant MA, Vosse BAH, de Weerd W, Verschuuren-Bemelmans CC, Medici-Van den Herik EG, Wallgren-Pettersson C, Küsters B, Schouten M, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: wallgren pettersson c. Neuromuscul Disord. 2024 Oct;43:29-38. doi: 10.1016/j.nmd.2024.08.001. Epub 2024 Aug 3. Neuromuscul Disord. 2024. PMID: 39180840 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: wallgren pettersson c. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. Sci Rep. 2024. PMID: 38383731 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. 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.
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: wallgren pettersson c. 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.
151 results