Martin JJ - Search Results

1

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

2

Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

Baets J, Dierick I, Groote CC, Ende Jv, Martin JJ, Geens K, Robberecht W, Nelis E, Timmerman V, Jonghe PD. Baets J, et al. Among authors: martin jj. Neuromuscul Disord. 2009 Feb;19(2):172-5. doi: 10.1016/j.nmd.2008.11.006. Epub 2009 Jan 22. Neuromuscul Disord. 2009. PMID: 19167223

3

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

4

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.

5

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: martin jj. Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281. Brain. 1999. PMID: 10071056

6

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.

7

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.

8

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V. De Jonghe P, et al. Among authors: martin jj. Ann Neurol. 2001 Feb;49(2):245-9. doi: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a. Ann Neurol. 2001. PMID: 11220745

9

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P. Meuleman J, et al. Among authors: martin jj. Neuromuscul Disord. 2001 May;11(4):400-3. doi: 10.1016/s0960-8966(00)00214-5. Neuromuscul Disord. 2001. PMID: 11369192

10

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Van Goethem G, et al. Among authors: martin jj. Neuromuscul Disord. 2003 Feb;13(2):133-42. doi: 10.1016/s0960-8966(02)00216-x. Neuromuscul Disord. 2003. PMID: 12565911

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