Van Broeckhoven C - Search Results

1

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.

De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: van broeckhoven c. Ann N Y Acad Sci. 1999 Sep 14;883:389-96. Ann N Y Acad Sci. 1999. PMID: 10586263 Review.

2

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Raeymaekers P, Timmerman V, De Jonghe P, Swerts L, Gheuens J, Martin JJ, Muylle L, De Winter G, Vandenberghe A, Van Broeckhoven C. Raeymaekers P, et al. Among authors: van broeckhoven c. Am J Hum Genet. 1989 Dec;45(6):953-8. Am J Hum Genet. 1989. PMID: 2589322 Free PMC article.

3

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.

Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C. Nelis E, et al. Among authors: van broeckhoven c. Hum Genet. 1994 Dec;94(6):653-7. doi: 10.1007/BF00206959. Hum Genet. 1994. PMID: 7527371

4

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C. Nelis E, et al. Among authors: van broeckhoven c. J Med Genet. 1994 Oct;31(10):811-5. doi: 10.1136/jmg.31.10.811. J Med Genet. 1994. PMID: 7530774 Free PMC article.

5

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.

Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C. Nelis E, et al. Among authors: van broeckhoven c. Hum Mol Genet. 1994 Mar;3(3):515-6. doi: 10.1093/hmg/3.3.515. Hum Mol Genet. 1994. PMID: 8012365 No abstract available.

6

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: van broeckhoven c. Neurology. 1996 May;46(5):1311-8. doi: 10.1212/wnl.46.5.1311. Neurology. 1996. PMID: 8628473

7

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: van broeckhoven c. J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):570-3. doi: 10.1136/jnnp.62.6.570. J Neurol Neurosurg Psychiatry. 1997. PMID: 9219740 Free PMC article.

8

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.

9

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: van maldergem l, van broeckhoven c. Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281. Brain. 1999. PMID: 10071056

10

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.

Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE. Stronach EA, et al. Among authors: van broeckhoven c. J Peripher Nerv Syst. 1999;4(2):117-22. J Peripher Nerv Syst. 1999. PMID: 10442687

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