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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: baas f. 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
Comparison of CMT1A and CMT2: similarities and differences.
Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M. Bienfait HM, et al. Among authors: baas f. J Neurol. 2006 Dec;253(12):1572-80. doi: 10.1007/s00415-006-0260-6. Epub 2006 Aug 28. J Neurol. 2006. PMID: 16941080
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: baas 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.
Myelin and axon pathology in a long-term study of PMP22-overexpressing mice.
Verhamme C, King RH, ten Asbroek AL, Muddle JR, Nourallah M, Wolterman R, Baas F, van Schaik IN. Verhamme C, et al. Among authors: baas f. J Neuropathol Exp Neurol. 2011 May;70(5):386-98. doi: 10.1097/NEN.0b013e318217eba0. J Neuropathol Exp Neurol. 2011. PMID: 21487305
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: baas 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.
416 results