Nelis E - Search Results

1

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

Irobi J, Nelis E, Verhoeven K, De Vriendt E, Dierick I, De Jonghe P, Van Broeckhoven C, Timmerman V. Irobi J, et al. Among authors: nelis e. J Peripher Nerv Syst. 2002 Jun;7(2):87-95. doi: 10.1046/j.1529-8027.2002.02014.x. J Peripher Nerv Syst. 2002. PMID: 12090300

2

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V. Dierick I, et al. Among authors: nelis e. Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5. Brain. 2008. PMID: 18325928

3

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.

Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: nelis e. J Neurol Sci. 1992 May;109(1):41-8. doi: 10.1016/0022-510x(92)90091-x. J Neurol Sci. 1992. PMID: 1517763

4

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

Timmerman V, De Jonghe P, Simokovic S, Löfgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: nelis e. Hum Mol Genet. 1996 Jul;5(7):1065-9. doi: 10.1093/hmg/5.7.1065. Hum Mol Genet. 1996. PMID: 8817349

5

Charcot-Marie-Tooth disease and related peripheral neuropathies.

De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: nelis e. J Peripher Nerv Syst. 1997;2(4):370-87. J Peripher Nerv Syst. 1997. PMID: 10975746 Review.

6

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

Irobi J, Nelis E, Meuleman J, Venken K, De Jonghe P, Van Broeckhoven C, Timmerman V. Irobi J, et al. Among authors: nelis e. Ann Hum Genet. 2001 Nov;65(Pt 6):517-29. doi: 10.1017/S0003480001008910. Ann Hum Genet. 2001. PMID: 11851982

7

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. Neuromuscul Disord. 2002 Nov;12(9):869-73. doi: 10.1016/s0960-8966(02)00046-9. Neuromuscul Disord. 2002. PMID: 12398840 Clinical Trial.

8

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: nelis e. 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.

9

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Among authors: nelis e. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086

10

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C. Raeymaekers P, et al. Among authors: nelis e. J Med Genet. 1992 Jan;29(1):5-11. doi: 10.1136/jmg.29.1.5. J Med Genet. 1992. PMID: 1552545 Free PMC article.

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