Krůtová M - Search Results

1

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

Marková SP, Brožková DŠ, Laššuthová P, Mészárosová A, Krůtová M, Neupauerová J, Rašková D, Trková M, Staněk D, Seeman P. Marková SP, et al. Among authors: krutova m. Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155. Genet Test Mol Biomarkers. 2018. PMID: 29425068

2

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.

Šafka Brožková D, Laštůvková J, Štěpánková H, Krůtová M, Trková M, Myška P, Seeman P. Šafka Brožková D, et al. Among authors: krutova m. Clin Genet. 2012 Dec;82(6):579-82. doi: 10.1111/j.1399-0004.2011.01817.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097895

3

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

Šafka Brozková D, Laššuthová P, Neupauerová J, Krůtová M, Haberlová J, Stejskal D, Seeman P. Šafka Brozková D, et al. Among authors: krutova m. Brain. 2013 Jul;136(Pt 7):e232. doi: 10.1093/brain/aws333. Epub 2013 Jan 16. Brain. 2013. PMID: 23328402 No abstract available.

4

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. Among authors: krutova m. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322

5

A case of imported Clostridium difficile PCR-ribotype 027 infection within the Czech Republic which has a high prevalence of C. difficile ribotype 176.

Krutova M, Nyc O, Kuijper EJ, Geigerova L, Matejkova J, Bergerova T, Arvand M. Krutova M, et al. Anaerobe. 2014 Dec;30:153-5. doi: 10.1016/j.anaerobe.2014.09.020. Epub 2014 Oct 7. Anaerobe. 2014. PMID: 25300750

6

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Laššuthová P, Brožková DŠ, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dvořáčková N, Goldenberg Z, Seeman P. Laššuthová P, et al. Among authors: krutova m. Neurogenetics. 2015 Jan;16(1):43-54. doi: 10.1007/s10048-014-0427-8. Epub 2014 Oct 24. Neurogenetics. 2015. PMID: 25342199

7

COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report.

Laššuthová P, Beharka R, Krůtová M, Neupauerová J, Seeman P. Laššuthová P, et al. Among authors: krutova m. Clin Genet. 2016 Apr;89(4):512-514. doi: 10.1111/cge.12649. Epub 2015 Aug 25. Clin Genet. 2016. PMID: 26302975 No abstract available.

8

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

Laššuthová P, Šafka Brožková D, Krůtová M, Mazanec R, Züchner S, Gonzalez MA, Seeman P. Laššuthová P, et al. Among authors: krutova m. Brain. 2016 Apr;139(Pt 4):e26. doi: 10.1093/brain/awv411. Epub 2016 Feb 11. Brain. 2016. PMID: 26912637 Free PMC article. No abstract available.

9

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman P. Laššuthová P, et al. Among authors: krutova m. Orphanet J Rare Dis. 2016 Aug 22;11(1):118. doi: 10.1186/s13023-016-0500-5. Orphanet J Rare Dis. 2016. PMID: 27549087 Free PMC article.

10

Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.

Laššuthová P, Šafka Brožková D, Neupauerová J, Krůtová M, Mazanec R, Seeman P. Laššuthová P, et al. Among authors: krutova m. Neuromuscul Disord. 2017 Jan;27(1):57-60. doi: 10.1016/j.nmd.2016.09.010. Epub 2016 Sep 22. Neuromuscul Disord. 2017. PMID: 27908631

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