Martin JJ - 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: martin jj. Ann N Y Acad Sci. 1999 Sep 14;883:389-96. Ann N Y Acad Sci. 1999. PMID: 10586263 Review.

2

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Ammar N, et al. Among authors: martin jj. Neuromuscul Disord. 2003 Nov;13(9):720-8. doi: 10.1016/s0960-8966(03)00093-2. Neuromuscul Disord. 2003. PMID: 14561495

3

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.

4

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, et al. Raeymaekers P, et al. Among authors: martin jj. Neuromuscul Disord. 1991;1(2):93-7. doi: 10.1016/0960-8966(91)90055-w. Neuromuscul Disord. 1991. PMID: 1822787

5

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: martin jj. Am J Hum Genet. 1989 Dec;45(6):953-8. Am J Hum Genet. 1989. PMID: 2589322 Free PMC article.

6

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

7

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.

8

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

9

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: martin jj. 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.

10

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.

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