De Jonghe P - Search Results

1

A novel AARS mutation in a family with dominant myeloneuropathy.

Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. Motley WW, et al. Among authors: de jonghe p, de vriendt e. Neurology. 2015 May 19;84(20):2040-7. doi: 10.1212/WNL.0000000000001583. Epub 2015 Apr 22. Neurology. 2015. PMID: 25904691 Free PMC article.

2

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.

3

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

4

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: de jonghe p. 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.

5

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

6

Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24.

Beuten J, De Vriendt E, De Jonghe P, Martin JJ, Van Broeckhoven C, Timmerman V. Beuten J, et al. Among authors: de jonghe p, de vriendt e. Neurosci Lett. 1997 Feb 14;223(1):69-71. doi: 10.1016/s0304-3940(97)13400-0. Neurosci Lett. 1997. PMID: 9058425

7

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.

8

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: de jonghe p, de vriendt e. 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.

9

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

10

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: de jonghe p, de vriendt e. Neurology. 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. Neurology. 1999. PMID: 10371530

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