Van Broeckhoven C - Search Results

1

Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding.

James R, Bellone E, Nelis E, Mandich P, Schenone A, Mancardi G, Van Broeckhoven C, Abbruzzese M, Ajmar F. James R, et al. Among authors: van broeckhoven c. Neurosci Lett. 1995 Jul 14;194(1-2):136-8. doi: 10.1016/0304-3940(95)11717-b. Neurosci Lett. 1995. PMID: 7478198

2

Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease.

Bellone E, Mandich P, James R, Nelis E, Lamba LD, Van Broeckhoven C, Ajmar F. Bellone E, et al. Among authors: van broeckhoven c. Hum Mutat. 1996;7(4):377-8. doi: 10.1002/humu.1380070403. Hum Mutat. 1996. PMID: 8723697 No abstract available.

3

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.

Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW. Hanemann CO, et al. Among authors: van broeckhoven c. J Neurosci Res. 1994 Apr 1;37(5):654-9. doi: 10.1002/jnr.490370513. J Neurosci Res. 1994. PMID: 8028042

4

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A, et al. Nelis E, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166. Eur J Hum Genet. 1996. PMID: 8800924 Free article.

5

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.

Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML. Silander K, et al. Among authors: van broeckhoven c. Hum Mutat. 1996;8(4):304-10. doi: 10.1002/(SICI)1098-1004(1996)8:4<304::AID-HUMU2>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8956034

6

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: van broeckhoven c. Hum Genet. 1997 Jun;99(6):746-54. doi: 10.1007/s004390050442. Hum Genet. 1997. PMID: 9187667

7

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome.

Stögbauer F, Young P, Wiebusch H, Timmerman V, Kuhlenbäumer G, Nelis E, Ringelstein EB, Kurlemann G, Assmann G, Van Broeckhoven C, Funke H. Stögbauer F, et al. Among authors: van broeckhoven c. Neurosci Lett. 1998 Jan 2;240(1):1-4. doi: 10.1016/s0304-3940(97)00887-2. Neurosci Lett. 1998. PMID: 9488160

8

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Reiter LT, et al. Among authors: van broeckhoven c. Am J Hum Genet. 1998 May;62(5):1023-33. doi: 10.1086/301827. Am J Hum Genet. 1998. PMID: 9545397 Free PMC article.

9

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

Nelis E, De Jonghe P, De Vriendt E, Patel PI, Martin JJ, Van Broeckhoven C. Nelis E, et al. Among authors: van broeckhoven c. J Med Genet. 1998 Jul;35(7):590-3. doi: 10.1136/jmg.35.7.590. J Med Genet. 1998. PMID: 9678704 Free PMC article.

10

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Nelis E, Haites N, Van Broeckhoven C. Nelis E, et al. Among authors: van broeckhoven c. Hum Mutat. 1999;13(1):11-28. doi: 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. Hum Mutat. 1999. PMID: 9888385 Review.

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