Haberlová J - Search Results

1

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.

Laššuthová P, Mazanec R, Staněk D, Sedláčková L, Plevová B, Haberlová J, Seeman P. Laššuthová P, et al. Among authors: haberlova j. Sci Rep. 2021 Apr 19;11(1):8443. doi: 10.1038/s41598-021-86857-0. Sci Rep. 2021. PMID: 33875678 Free PMC article.

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.

Haberlová J, Mazanec R, Ridzoň P, Baránková L, Nürnberg G, Nürnberg P, Sticht H, Huehne K, Seeman P, Rautenstrauss B. Haberlová J, et al. J Neurogenet. 2011 Dec;25(4):182-8. doi: 10.3109/01677063.2011.627484. J Neurogenet. 2011. PMID: 22091729

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