Haberlova J - Search Results

1

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. Bennett CL, et al. Among authors: haberlova j. Ann Neurol. 2004 May;55(5):713-20. doi: 10.1002/ana.20094. Ann Neurol. 2004. PMID: 15122712

2

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P. Ivanova N, et al. Among authors: haberlova j. Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706. Arch Neurol. 2007. PMID: 17502470

3

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Haberlová J, Claeys KG, Zámecník J, De Jonghe P, Seeman P. Haberlová J, et al. J Neurol. 2008 Jun;255(6):927-8. doi: 10.1007/s00415-008-0598-z. Epub 2008 Apr 30. J Neurol. 2008. PMID: 18446315 No abstract available.

4

Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype.

Haberlová J, Claeys KG, De Jonghe P, Seeman P. Haberlová J, et al. Neuromuscul Disord. 2009 Jun;19(6):427-8. doi: 10.1016/j.nmd.2009.03.005. Epub 2009 May 5. Neuromuscul Disord. 2009. PMID: 19409784

5

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P. Lassuthová P, et al. Among authors: haberlova j. J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8. J Hum Genet. 2009. PMID: 19424285

6

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

Brozková D, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P. Brozková D, et al. Among authors: haberlova j. Genet Test Mol Biomarkers. 2010 Feb;14(1):3-7. doi: 10.1089/gtmb.2009.0093. Genet Test Mol Biomarkers. 2010. PMID: 20039784

7

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.

Brozková D, Mazanec R, Haberlová J, Sakmaryová I, Seeman P. Brozková D, et al. Among authors: haberlova j. Clin Genet. 2010 Jul;78(1):81-7. doi: 10.1111/j.1399-0004.2010.01423.x. Epub 2010 Apr 20. Clin Genet. 2010. PMID: 20456450

8

Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease.

Haberlová J, Seeman P. Haberlová J, et al. Pediatr Neurol. 2010 Dec;43(6):407-10. doi: 10.1016/j.pediatrneurol.2010.06.004. Pediatr Neurol. 2010. PMID: 21093731

9

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P. Laššuthová P, et al. Among authors: haberlova j. Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1. Clin Genet. 2011. PMID: 21291453

10

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P. Brožková D, et al. Among authors: haberlova j. Muscle Nerve. 2011 Nov;44(5):819-22. doi: 10.1002/mus.22189. Muscle Nerve. 2011. PMID: 22006697

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