List of works - Petra Laššuthová

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

scientific article published on 25 August 2015

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

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

scientific article published on 22 September 2016

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

scientific article published on April 2014

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

scientific article published on 01 August 2019

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

scientific article published on 01 August 2009

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

scientific article published on 22 December 2016

High frequency of SH3TC2 mutations in Czech HMSN I patients

scientific article published on 01 March 2011

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

scientific article published on 12 September 2018

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

scientific article published on 22 August 2016

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

scientific article published on 08 December 2016

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

scientific article

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

scientific article published on 24 February 2016

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

scientific article published on 24 October 2014

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

scientific article

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

scientific article published on 8 May 2009

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

scientific article published on 14 August 2018

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

scientific article published on 11 February 2016

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

scientific article

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

scientific article published on 14 June 2013

List of works by Petra Laššuthová

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

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

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

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

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

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

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

High frequency of SH3TC2 mutations in Czech HMSN I patients

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

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

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

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

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

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

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

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

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

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

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

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