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Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V. Verhoeven K, et al. Among authors: ceuterick c. Am J Hum Genet. 2003 Oct;73(4):926-32. doi: 10.1086/378159. Epub 2003 Aug 19. Am J Hum Genet. 2003. PMID: 14508709 Free PMC article.
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: ceuterick c. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. Nelis E, et al. Among authors: ceuterick c. Neuromuscul Disord. 2002 Nov;12(9):869-73. doi: 10.1016/s0960-8966(02)00046-9. Neuromuscul Disord. 2002. PMID: 12398840 Clinical Trial.
96 results