Neupauerová J - Search Results

1

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: neupauerova j. 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.

2

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P. Neupauerová J, et al. Ann Hum Genet. 2016 May;80(3):182-6. doi: 10.1111/ahg.12151. Epub 2016 Feb 24. Ann Hum Genet. 2016. PMID: 26916081

3

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Šafka Brožková D, Paulasová Schwabová J, Neupauerová J, Sabová J, Krůtová M, Peřina V, Trková M, Laššuthová P, Seeman P. Šafka Brožková D, et al. Among authors: neupauerova j. J Hum Genet. 2017 Mar;62(3):431-435. doi: 10.1038/jhg.2016.148. Epub 2016 Dec 22. J Hum Genet. 2017. PMID: 28003645

4

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D, Laššuthová P, Štěrbová K, Vlčková M, Neupauerová J, Krůtová M, Seeman P. Staněk D, et al. Among authors: neupauerova j. Orphanet J Rare Dis. 2018 May 2;13(1):71. doi: 10.1186/s13023-018-0812-8. Orphanet J Rare Dis. 2018. PMID: 29720203 Free PMC article.

5

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: neupauerova j. Neurogenetics. 2015 Jan;16(1):43-54. doi: 10.1007/s10048-014-0427-8. Epub 2014 Oct 24. Neurogenetics. 2015. PMID: 25342199

6

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J. Laššuthová P, et al. Among authors: neupauerova j. Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14. Clin Genet. 2018. PMID: 30028002 Review.

7

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

Brožková DŠ, Posádka J, Laššuthová P, Mazanec R, Haberlová J, Sišková D, Sakmaryová I, Neupauerová J, Seeman P. Brožková DŠ, et al. Among authors: neupauerova j. Mol Med Rep. 2013 Dec;8(6):1779-84. doi: 10.3892/mmr.2013.1730. Epub 2013 Oct 14. Mol Med Rep. 2013. PMID: 24126688

8

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

Marková S, Šafka Brožková D, Mészárosová A, Neupauerová J, Groh D, Křečková G, Laššuthová P, Seeman P. Marková S, et al. Among authors: neupauerova j. Int J Pediatr Otorhinolaryngol. 2016 Jul;86:27-33. doi: 10.1016/j.ijporl.2016.04.005. Epub 2016 Apr 7. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27260575

9

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: neupauerova j. 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

10

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899

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