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

Brain (London, England : 1878), 2016-04, Vol.139 (Pt 4), p.e26-e26

2016

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Confirmation of the GNB4 gene as causal for charcot-marie-tooth disease by a novel de novo mutation in a czech patient

Neuromuscular disorders : NMD, 2017-01, Vol.27 (1), p.57-60

2017

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

Brain (London, England : 1878), 2013-07, Vol.136 (Pt 7), p.e232-e232

2013

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

Genetic testing and molecular biomarkers, 2018-02, Vol.22 (2), p.127-134

2018

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MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

PloS one, 2015-04, Vol.10 (4), p.e0124232-e0124232

2015

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

Molecular medicine reports, 2013-12, Vol.8 (6), p.1779-1784

2013

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Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

Genetic testing and molecular biomarkers, 2020-05, Vol.24 (5), p.264-273

2020

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Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

European archives of oto-rhino-laryngology, 2019-12, Vol.276 (12), p.3353-3358

2019

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Charcot–Marie–Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype – Usefulness of human mapping chip linkage analysis in a Czech family

Neuromuscular disorders : NMD, 2012-08, Vol.22 (8), p.742-746

2012

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A progressive KY myopathy could be caused by a missense pathogenic variant

Clinical genetics, 2023-06, Vol.103 (6), p.723-725

2023

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

Journal of human genetics, 2017-03, Vol.62 (3), p.431-435

2017

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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Orphanet journal of rare diseases, 2016-08, Vol.11 (1), p.118-118, Article 118

2016

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-222, Article 222

2020

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The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

Genes, 2021-05, Vol.12 (5), p.684

2021

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Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Neuroscience letters, 2020-03, Vol.721, p.134800-134800, Article 134800

2020

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DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family

International journal of pediatric otorhinolaryngology, 2012-11, Vol.76 (11), p.1681-1684

2012

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Hereditary motor neuropathies

Neurologie pro praxi, 2016-12, Vol.17 (6), p.354-358

2016

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

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2161-2172

2015

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Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Annals of neurology, 2021-11, Vol.90 (5), p.738-750

2021

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Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

Clinical genetics, 2020-12, Vol.98 (6), p.548-554

2020

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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

Journal of clinical neuroscience, 2019-01, Vol.59, p.337-339

2019

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

International journal of pediatric otorhinolaryngology, 2016-07, Vol.86, p.27-33

2016

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Variant c.2158-2AG in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Orphanet journal of rare diseases, 2020-08, Vol.15 (1)

2020

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Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers

Clinical dysmorphology, 2020-10, Vol.29 (4), p.197-201

2020

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

Confirmation of the GNB4 gene as causal for charcot-marie-tooth disease by a novel de novo mutation in a czech patient

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

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

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

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

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

Charcot–Marie–Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype – Usefulness of human mapping chip linkage analysis in a Czech family

A progressive KY myopathy could be caused by a missense pathogenic variant

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

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family

Hereditary motor neuropathies

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

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

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

Variant c.2158-2AG in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers

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