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Page 1
Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis.
Vigo T, Nobbio L, Hummelen PV, Abbruzzese M, Mancardi G, Verpoorten N, Verhoeven K, Sereda MW, Nave KA, Timmerman V, Schenone A. Vigo T, et al. Among authors: timmerman v. Mol Cell Neurosci. 2005 Apr;28(4):703-14. doi: 10.1016/j.mcn.2004.11.016. Mol Cell Neurosci. 2005. PMID: 15797717
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F. Bort S, et al. Among authors: timmerman v. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667
Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.
Müller HW, Suter U, Van Broeckhoven C, Hanemann CO, Nelis E, Timmerman V, Sancho S, Barrio L, Bolhuis P, Dermietzel R, Frank M, Gabreëls-Festen A, Gillen C, Haites N, Levi G, Mariman E, Martini R, Nave K, Rautenstrauss B, Schachner M, Schenone A, Schneider C, Schröder M, Willecke K. Müller HW, et al. Among authors: timmerman v. Neurobiol Dis. 1997;4(3-4):215-20. doi: 10.1006/nbdi.1997.0148. Neurobiol Dis. 1997. PMID: 9361297 Review.
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Verhoeven K, et al. Among authors: timmerman v. Am J Hum Genet. 2003 Mar;72(3):722-7. doi: 10.1086/367847. Epub 2003 Jan 21. Am J Hum Genet. 2003. PMID: 12545426 Free PMC article.
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: timmerman v. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280
291 results