Petra Lassuthova

Petra Lassuthova

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Petra Lassuthova

Petra Lassuthova

Publications by authors named "Petra Lassuthova"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

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

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.01.009DOI Listing
January 2019

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

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

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

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

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

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

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

Brain 2016 Apr 11;139(Pt 4):e26. Epub 2016 Feb 11.

1 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/10.1093/brain/awv411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276929PMC
April 2016

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.

J Child Neurol 2014 Jul 14;29(7):924-31. Epub 2013 Jun 14.

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

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http://dx.doi.org/10.1177/0883073813492387DOI Listing
July 2014

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Orphanet J Rare Dis 2014 Apr 1;9:46. Epub 2014 Apr 1.

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/10.1186/1750-1172-9-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976362PMC
April 2014

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

Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.

J Neurogenet 2012 Sep 5;26(3-4):413-20. Epub 2012 Sep 5.

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/10.3109/01677063.2012.711398DOI Listing
September 2012

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.

Pediatr Neurol 2009 Aug;41(2):127-30

Department of Child Neurology, Second School of Medicine, Charles University Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.03.009DOI Listing
August 2009

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

J Hum Genet 2009 Jun 8;54(6):365-8. Epub 2009 May 8.

DNA Laboratory, Department of Child Neurology, 2nd School of Medicine, Charles University Prague, Prague, Czech Republic.

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http://dx.doi.org/10.1038/jhg.2009.43DOI Listing
June 2009