De Vriendt E - Search Results

1

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: de jonghe p, de vriendt e. Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753178 Free PMC article.

2

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

3

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.

4

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

5

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

6

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: de vriendt e. Arch Neurol. 1999 Oct;56(10):1283-8. doi: 10.1001/archneur.56.10.1283. Arch Neurol. 1999. PMID: 10520946

7

Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24.

Irobi J, Timmerman V, De Jonghe P, De Vriendt E, Van Broeckhoven C, Beuten J. Irobi J, et al. Among authors: de jonghe p, de vriendt e. Ann N Y Acad Sci. 1999 Sep 14;883:463-5. Ann N Y Acad Sci. 1999. PMID: 10586274 No abstract available.

8

Mutation screening of Charcot-Marie-Tooth patients in Poland.

Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, Van Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I. Kochański A, et al. Among authors: de vriendt e. Ann N Y Acad Sci. 1999 Sep 14;883:493-6. Ann N Y Acad Sci. 1999. PMID: 10586282 No abstract available.

9

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Meulemann J, et al. Among authors: de jonghe p, de vriendt e. Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384. Eur J Hum Genet. 1999. PMID: 10602368

10

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, Beuten J. Irobi J, et al. Among authors: de jonghe p, de vriendt e. Genomics. 2000 Apr 1;65(1):34-43. doi: 10.1006/geno.2000.6149. Genomics. 2000. PMID: 10777663

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