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The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ. de Vries SD, et al. Among authors: van paassen bw, van ruissen f, van der kooi aj, van engelen bg. J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x. J Peripher Nerv Syst. 2011. PMID: 21692910
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F. Weterman MA, et al. Among authors: van der pol wl, van ruissen f. Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888301 Free PMC article.
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Beeldman E, van der Kooi AJ, de Visser M, van Maarle MC, van Ruissen F, Baas F. Beeldman E, et al. Among authors: van der kooi aj, van ruissen f, van maarle mc. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):410-1. doi: 10.3109/21678421.2015.1066821. Epub 2015 Jul 23. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 26203661
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ, Kuo M, Kenter SB, Gordillo S, Karjosukarso DW, Takase R, Bronk M, Oprescu S, van Ruissen F, Witteveen RJW, Bienfait HME, Breuning M, Verhamme C, Hou YM, de Visser M, Antonellis A, Baas F. Weterman MAJ, et al. Among authors: van ruissen f. Hum Mol Genet. 2018 Dec 1;27(23):4036-4050. doi: 10.1093/hmg/ddy290. Hum Mol Genet. 2018. PMID: 30124830 Free PMC article.
Serial analysis of gene expression (SAGE).
van Ruissen F, Baas F. van Ruissen F, et al. Methods Mol Biol. 2007;383:41-66. doi: 10.1007/978-1-59745-335-6_4. Methods Mol Biol. 2007. PMID: 18217678
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
Voermans NC, Kleefstra T, Gabreëls-Festen AA, Faas BH, Kamsteeg EJ, Houlden H, Laurá M, Polke JM, Pandraud A, van Ruissen F, van Engelen BG, Reilly MM. Voermans NC, et al. Among authors: van ruissen f, van engelen bg. J Peripher Nerv Syst. 2012 Jun;17(2):223-5. doi: 10.1111/j.1529-8027.2012.00402.x. J Peripher Nerv Syst. 2012. PMID: 22734911 No abstract available.
46 results