Martin JJ - Search Results

1

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

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

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

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.

5

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

6

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

7

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: martin jj. Neurology. 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. Neurology. 1999. PMID: 10371530

8

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Ceuterick C, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: martin jj. Arch Neurol. 1999 Oct;56(10):1283-8. doi: 10.1001/archneur.56.10.1283. Arch Neurol. 1999. PMID: 10520946

9

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.

10

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. Eidhof I, et al. Among authors: martin jj. Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198. Brain. 2018. PMID: 30084953 Free PMC article.

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