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TDP-43 accumulation is common in myopathies with rimmed vacuoles.
Küsters B, van Hoeve BJ, Schelhaas HJ, Ter Laak H, van Engelen BG, Lammens M. Küsters B, et al. Among authors: van hoeve bj, van engelen bg. Acta Neuropathol. 2009 Feb;117(2):209-11. doi: 10.1007/s00401-008-0471-2. Epub 2008 Dec 9. Acta Neuropathol. 2009. PMID: 19066918 No abstract available.
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.
Nijmegen breakage syndrome: a neuropathological study.
Lammens M, Hiel JA, Gabreëls FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Lammens M, et al. Among authors: van engelen bg, van den heuvel lp. Neuropediatrics. 2003 Aug;34(4):189-93. doi: 10.1055/s-2003-42207. Neuropediatrics. 2003. PMID: 12973659
556 results