Timmerman V - Search Results

1

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

Bouhy D, Juneja M, Katona I, Holmgren A, Asselbergh B, De Winter V, Hochepied T, Goossens S, Haigh JJ, Libert C, Ceuterick-de Groote C, Irobi J, Weis J, Timmerman V. Bouhy D, et al. Among authors: timmerman v. Acta Neuropathol. 2018 Jan;135(1):131-148. doi: 10.1007/s00401-017-1756-0. Epub 2017 Aug 5. Acta Neuropathol. 2018. PMID: 28780615 Free PMC article.

2

Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.

Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Ann N Y Acad Sci. 1999 Sep 14;883:60-4. Ann N Y Acad Sci. 1999. PMID: 10586231

3

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: timmerman v. Ann N Y Acad Sci. 1999 Sep 14;883:463-5. Ann N Y Acad Sci. 1999. PMID: 10586274 No abstract available.

4

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: timmerman v. Genomics. 2000 Apr 1;65(1):34-43. doi: 10.1006/geno.2000.6149. Genomics. 2000. PMID: 10777663

5

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ. Ceuterick-de Groote C, et al. Among authors: timmerman v. Pathol Res Pract. 2001;197(3):193-8. doi: 10.1078/0344-0338-00033. Pathol Res Pract. 2001. PMID: 11314784

6

Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies.

Venken K, Meuleman J, Irobi J, Ceuterick C, Martini R, De Jonghe P, Timmerman V. Venken K, et al. Among authors: timmerman v. Neuroreport. 2001 Aug 8;12(11):2609-14. doi: 10.1097/00001756-200108080-00063. Neuroreport. 2001. PMID: 11496158

7

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

Irobi J, Nelis E, Meuleman J, Venken K, De Jonghe P, Van Broeckhoven C, Timmerman V. Irobi J, et al. Among authors: timmerman v. Ann Hum Genet. 2001 Nov;65(Pt 6):517-29. doi: 10.1017/S0003480001008910. Ann Hum Genet. 2001. PMID: 11851982

8

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V. De Jonghe P, et al. Among authors: timmerman v. Brain. 2002 Jun;125(Pt 6):1320-5. doi: 10.1093/brain/awf127. Brain. 2002. PMID: 12023320

9

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

Irobi J, Nelis E, Verhoeven K, De Vriendt E, Dierick I, De Jonghe P, Van Broeckhoven C, Timmerman V. Irobi J, et al. Among authors: timmerman v. J Peripher Nerv Syst. 2002 Jun;7(2):87-95. doi: 10.1046/j.1529-8027.2002.02014.x. J Peripher Nerv Syst. 2002. PMID: 12090300

10

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: timmerman v. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520

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