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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: van engelen bg. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
A new phenotype of autosomal dominant nemaline myopathy.
Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ. Gommans IM, et al. Among authors: van engelen bg. Neuromuscul Disord. 2002 Jan;12(1):13-8. doi: 10.1016/s0960-8966(01)00231-0. Neuromuscul Disord. 2002. PMID: 11731279
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Janssen MC, et al. Eur J Hum Genet. 2013 Aug;21(8):807-15. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232698 Free PMC article.
Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.
Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B. Voermans NC, et al. Among authors: van engelen bg. Neurology. 2014 Dec 2;83(23):2133-9. doi: 10.1212/WNL.0000000000001047. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378674 Free article.
Muscle slowness in a family with nemaline myopathy.
Pauw-Gommans IM, Gerrits KH, de Haan A, van Engelen BG. Pauw-Gommans IM, et al. Among authors: van engelen bg. Neuromuscul Disord. 2006 Aug;16(8):477-80. doi: 10.1016/j.nmd.2006.05.003. Epub 2006 Jun 21. Neuromuscul Disord. 2006. PMID: 16793268
A case of neuromuscular mimicry.
Bos MM, Overeem S, van Engelen BG, Scheffer H, van den Elzen C, Ter Laak H, Lammens M, Schelhaas HJ, Zwarts MJ. Bos MM, et al. Among authors: van engelen bg, van den elzen c. Neuromuscul Disord. 2006 Aug;16(8):510-3. doi: 10.1016/j.nmd.2006.06.005. Epub 2006 Aug 21. Neuromuscul Disord. 2006. PMID: 16919950
545 results