De Jonghe P - Search Results

1

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J. Mademan I, et al. Among authors: de jonghe p. Neurology. 2013 Nov 26;81(22):1953-8. doi: 10.1212/01.wnl.0000436615.58705.c9. Epub 2013 Oct 30. Neurology. 2013. PMID: 24174593

2

De-novo mutation in hereditary motor and sensory neuropathy type I.

Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. Hoogendijk JE, et al. Among authors: de jonghe p. Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s. Lancet. 1992. PMID: 1349106

3

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.

Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: de jonghe p. J Neurol Sci. 1992 May;109(1):41-8. doi: 10.1016/0022-510x(92)90091-x. J Neurol Sci. 1992. PMID: 1517763

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: de jonghe p, de visser m. 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: de jonghe p, de winter g. Am J Hum Genet. 1989 Dec;45(6):953-8. Am J Hum Genet. 1989. PMID: 2589322 Free PMC article.

6

Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers.

Raeymaekers P, De Jonghe P, Backhovens H, Wehnert A, De Winter G, Swerts L, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Raeymaekers P, et al. Among authors: de jonghe p, de winter g. Neurology. 1989 Jun;39(6):844-6. doi: 10.1212/wnl.39.6.844. Neurology. 1989. PMID: 2725880

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

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. 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

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

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