Publications by authors named "Jana Neupauerová"

17Publications

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.

Neuropediatrics 2019 02 5;50(1):57-60. Epub 2018 Dec 5.

DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676288
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http://dx.doi.org/10.1055/s-0038-1676288DOI Listing
February 2019

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

Orphanet J Rare Dis 2018 05 2;13(1):71. Epub 2018 May 2.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/s13023-018-0812-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755PMC
May 2018

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

J Hum Genet 2018 Jul 10;63(7):803-810. Epub 2018 Apr 10.

Child Neurology, DNA Laboratory, 2nd Medical Faculty, Charles University and University Hospital Motol, Úvalu 84, 150 06, Prague, Czech Republic.

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http://dx.doi.org/10.1038/s10038-018-0444-9DOI Listing
July 2018

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.

Neuropediatrics 2018 06 14;49(3):204-208. Epub 2018 Feb 14.

DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1055/s-0038-1626708DOI Listing
June 2018

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

Genet Test Mol Biomarkers 2018 Feb;22(2):127-134

1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Motol University Hospital, Charles University in Prague , Prague, Czech Republic .

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http://dx.doi.org/10.1089/gtmb.2017.0155DOI Listing
February 2018

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Genet Test Mol Biomarkers 2017 Oct 5;21(10):613-618. Epub 2017 Sep 5.

1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .

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http://dx.doi.org/10.1089/gtmb.2017.0110DOI Listing
October 2017

KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.

Pediatr Neurol 2017 02 8;67:e3-e4. Epub 2016 Dec 8.

DNA Laboratory, Department of Child Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.11.007DOI Listing
February 2017

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

J Hum Genet 2017 Mar 22;62(3):431-435. Epub 2016 Dec 22.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1038/jhg.2016.148DOI Listing
March 2017

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

Neuromuscul Disord 2017 Jan 22;27(1):57-60. Epub 2016 Sep 22.

Department of Paediatric Neurology, DNA Lab, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.nmd.2016.09.010DOI Listing
January 2017

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Orphanet J Rare Dis 2016 08 22;11(1):118. Epub 2016 Aug 22.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/s13023-016-0500-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994270PMC
August 2016

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

Int J Pediatr Otorhinolaryngol 2016 Jul 7;86:27-33. Epub 2016 Apr 7.

DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital.

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http://dx.doi.org/10.1016/j.ijporl.2016.04.005DOI Listing
July 2016

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

Ann Hum Genet 2016 May 24;80(3):182-6. Epub 2016 Feb 24.

DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1111/ahg.12151DOI Listing
May 2016

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

Mol Med Rep 2013 Dec 14;8(6):1779-84. Epub 2013 Oct 14.

DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, Prague 15006, Czech Republic.

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http://dx.doi.org/10.3892/mmr.2013.1730DOI Listing
December 2013