Martin JJ - Search Results

1

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C. Timmerman V, et al. Among authors: martin jj. J Med Genet. 1997 Jan;34(1):43-9. doi: 10.1136/jmg.34.1.43. J Med Genet. 1997. PMID: 9032649 Free PMC article.

2

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: martin jj. 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.

3

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Timmerman V, et al. Among authors: martin jj. Am J Hum Genet. 1990 Oct;47(4):680-5. Am J Hum Genet. 1990. PMID: 2220808 Free PMC article.

4

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: martin jj. Hum Genet. 1994 Dec;94(6):653-7. doi: 10.1007/BF00206959. Hum Genet. 1994. PMID: 7527371

5

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: martin jj. 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.

6

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C. Timmerman V, et al. Among authors: martin jj. Hum Genet. 1996 Jan;97(1):26-34. doi: 10.1007/BF00218828. Hum Genet. 1996. PMID: 8557256

7

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: martin jj. Neurology. 1996 May;46(5):1311-8. doi: 10.1212/wnl.46.5.1311. Neurology. 1996. PMID: 8628473

8

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: martin jj. Hum Mol Genet. 1996 Jul;5(7):1065-9. doi: 10.1093/hmg/5.7.1065. Hum Mol Genet. 1996. PMID: 8817349

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: martin jj. 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

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: martin jj. J Peripher Nerv Syst. 1997;2(4):370-87. J Peripher Nerv Syst. 1997. PMID: 10975746 Review.

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