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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, van Gassen KLI. Terhal PA, et al. Among authors: bos jw. Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14. Eur J Hum Genet. 2020. PMID: 31089205 Free PMC article.
IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset.
Budding K, Bos JW, Dijkxhoorn K, de Zeeuw E, Bloemenkamp LM, Zekveld EM, Groen EJN, Jacobs BC, Huizinga R, Goedee HS, Cats EA, Leusen JHW, van den Berg LH, Hack CE, van der Pol WL. Budding K, et al. Among authors: bos jw. J Neuroinflammation. 2024 Apr 17;21(1):100. doi: 10.1186/s12974-024-03090-y. J Neuroinflammation. 2024. PMID: 38632654 Free PMC article.
Anti-C2 Antibody ARGX-117 Inhibits Complement in a Disease Model for Multifocal Motor Neuropathy.
Budding K, Johansen LE, Van de Walle I, Dijkxhoorn K, de Zeeuw E, Bloemenkamp LM, Bos JW, Jansen MD, Curial CAD, Silence K, de Haard H, Blanchetot C, Van de Ven L, Leusen JHW, Pasterkamp RJ, van den Berg LH, Hack CE, Boross P, van der Pol WL. Budding K, et al. Among authors: bos jw. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 10;9(1):e1107. doi: 10.1212/NXI.0000000000001107. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34759020 Free PMC article.
54 results