P. Seeman

P. Krsek, K. Štěrbová, P. Dušek, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

High frequency of SH3TC2 mutations in Czech HMSN I patients

P. Vondracek, P. Seeman, R. Mazanec, 2011, Clinical genetics.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, B. Schlotter-Weigel, 2010, American journal of human genetics.

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.

P. Seeman, R. Mazanec, J. Haberlová, 2010, Genetic testing and molecular biomarkers.

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

K. Claeys, P. Seeman, J. Zamecnik, 2008, Journal of Neurology.

L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

A. Kochański, V. Timmerman, I. Hausmanowa-Petrusewicz, 2010, neurogenetics.

GDAP1 mutations in Czech families with early-onset CMT

S. Züchner, P. Vondracek, E. Nelis, 2007, Neuromuscular Disorders.

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

K. Huehne, B. Rautenstrauss, P. Seeman, 2009, Journal of Human Genetics.

A 71‐nucleotide deletion in the periaxin gene in a Romani patient with early‐onset slowly progressive demyelinating CMT

B. Rautenstrauss, P. Seeman, M. Bojar, 2008, European journal of neurology.

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

K. Huehne, B. Rautenstrauss, P. Seeman, 2004, Neurology.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

P. Seeman, R. Mazanec, J. Haberlová, 2016, Clinical genetics.

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

R. Kaneva, L. Kalaydjieva, P. Seeman, 2008, Clinical genetics.

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis

B. Rautenstrauss, P. Seeman, M. Vyhnálek, 2005, Neuromuscular Disorders.

Charcot‐Marie‐Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype

B. Rautenstrauss, P. Seeman, R. Mazanec, 1999, Annals of the New York Academy of Sciences.

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

G. Nürnberg, P. Nürnberg, K. Huehne, 2011, Journal of neurogenetics.

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

M. Trková, P. Seeman, P. Laššuthová, 2018, Genetic testing and molecular biomarkers.

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

S. Züchner, Michael A. Gonzalez, P. Seeman, 2016, Brain : a journal of neurology.

[Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome].

E. Seemanová, K. Sperling, P. Seeman, 2006, Casopis lekaru ceskych.

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

E. Seemanová, K. Sperling, P. Seeman, 2006, Casopis lekaru ceskych.

Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.

P. Seeman, I. Sakmaryová, L. Báranková, 2006, Genetic testing.

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

P. Seeman, P. Laššuthová, J. Neupauerová, 2016, Annals of human genetics.

MFN2 mutations cause compensatory mitochondrial DNA proliferation

P. Chinnery, P. Yu-Wai-Man, R. Horvath, 2012, Brain : a journal of neurology.

Peer Review Status: Peer reviewed Citation for item:

P. Yu-Wai-Man, R. Horvath, B. Rautenstrauss, 2012 .

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

P. Seeman, R. Mazanec, I. Sakmaryová, 2013, neurogenetics.

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

Yunhong Bai, M. Shy, Jun Li, 2006, Archives of neurology.

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

P. Seeman, P. Laššuthová, T. Maříková, 2009, Pediatric neurology.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

E. Schröck, E. Seemanová, K. Sperling, 2005, Journal of Medical Genetics.

Basics of Disorders of Hearing Development

R. Schönweiler, H. Bolz, E. Seemanová, 2019 .

Charcot‐Marie‐Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

M. Hermanová, P. Vondracek, R. Gaillyová, 2007, European journal of neurology.

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

P. Krsek, K. Štěrbová, P. Seeman, 2018, Neuropediatrics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.

K. Štěrbová, P. Seeman, Irena Buksakowská, 2021, European journal of medical genetics.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

M. Tekin, M. Krawczak, M. Nothnagel, 2016, PloS one.

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

P. Seeman, R. Mazanec, P. Laššuthová, 2013, Molecular medicine reports.

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

S. Nevsimalova, B. Rautenstrauss, P. Seeman, 2012, Neuromuscular Disorders.

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

P. Seeman, R. Mazanec, Jiří Böhm, 2011, Muscle & nerve.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

J. Lupski, K. Woodward, Vahid Bahrambeigi, 2019, Genome Medicine.

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Suzanne M. McCahan, J. Lupski, C. Carvalho, 2015, PLoS genetics.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Prot2HG: a database of protein domains mapped to the human genome

Stephan Züchner, David Stanek, Dana M. Bis-Brewer, 2020, Database J. Biol. Databases Curation.

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

M. Skopkova, D. Gašperíková, P. Seeman, 2020, Orphanet Journal of Rare Diseases.

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

K. Štěrbová, P. Seeman, M. Vlčková, 2018, Orphanet Journal of Rare Diseases.

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.

P. Seeman, L. Sedláčková, P. Laššuthová, 2020, Genetic testing and molecular biomarkers.

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

P. Krsek, K. Štěrbová, P. Seeman, 2017, Genetic testing and molecular biomarkers.

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre‐lingual deafness

E. Seemanová, P. Seeman, Z. Kabelka, 2004, Clinical genetics.

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

C. Broeckhoven, W. Robberecht, J. Vandekerckhove, 2004, Nature Genetics.

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

M. Trková, P. Seeman, M. Malíková, 2018, Journal of Human Genetics.

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

P. Seeman, Z. Čada, J. Laštůvková, 2020, Clinical genetics.

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.

L. Kalaydjieva, P. Seeman, D. Chandler, 2007, Genetic testing.

Lower urinary tract functions in a series of Charcot–Marie–Tooth neuropathy patients

J. Krhut, P. Zvára, P. Seeman, 2014, Acta neurologica Scandinavica.

Utility of Charcot-Marie-Tooth Neuropathy Score in children with type 1A disease.

P. Seeman, J. Haberlova, 2010, Pediatric neurology.

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.

J. Zidar, B. Rautenstrauss, P. Seeman, 2000, International journal of molecular medicine.

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

K. Štěrbová, P. Seeman, M. Vlčková, 2018, Neuropediatrics.

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

P. Seeman, R. Mazanec, P. Laššuthová, 2016, Orphanet Journal of Rare Diseases.

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

P. Seeman, J. Zamecnik, J. Garbern, 2014, Journal of child neurology.

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

P. Seeman, J. Garbern, K. Sperle, 2014, Human molecular genetics.

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

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

SPG11: clinical and genetic features of seven Czech patients and literature review

R. Jech, J. Roth, P. Seeman, 2022, Neurological research.

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

P. Seeman, A. Mészárosová, D. Šafka Brožková, 2020, Neuroscience Letters.

X‐linked Charcot–Marie–Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene

M. Hermanová, P. Vondracek, L. Fajkusová, 2005, Muscle & nerve.

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

P. Seeman, J. Plzák, R. Černý, 2019, European Archives of Oto-Rhino-Laryngology.

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

B. Schlotter-Weigel, W. Löscher, A. Hotz-Wagenblatt, 2019, Immunity.

Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype

K. Claeys, P. Seeman, P. Jonghe, 2009, Neuromuscular Disorders.

GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.

J. Pavelić, P. Seeman, V. Musani, 2009, Genetic testing and molecular biomarkers.

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

P. Seeman, R. Mazanec, P. Laššuthová, 2014, neurogenetics.

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

P. Seeman, R. Mazanec, L. Sedláčková, 2021, Scientific Reports.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

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

Yi-Chung Lee, L. Santoro, G. Ravenscroft, 2018, American journal of human genetics.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

C. Verfaillie, R. Horvath, D. Pareyson, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

P. Seeman, R. Sedláček, L. Sarnová, 2012, Journal of neurogenetics.

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

P. Seeman, A. Filouš, P. Laššuthová, 2014, Orphanet Journal of Rare Diseases.

Hereditary neuropathies in childhood

P. Seeman, 2022, Neurologie pro praxi.

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, PloS one.

Genetics of hereditary spastic paraplegias

P. Seeman, Anna Uhrová Mészárosová, 2019, Neurologie pro praxi.

Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients

Z. Kalina, P. Seeman, M. Čermáková, 2017, Annals of human genetics.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

P. Seeman, C. Beetz, D. Stejskal, 2016, Journal of Human Genetics.

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Nurit Assia Batzir, N. Orenstein, J. Denecke, 2021, Annals of neurology.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population

P. Seeman, Z. Kabelka, O. Bendová, 2005, Annals of human genetics.

High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2

P. Seeman, I. Sakmaryová, 2006, Clinical genetics.

Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation.

J. Popelář, J. Syka, P. Seeman, 2013, Physiological research.

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

P. Seeman, P. Laššuthová, D. Gróh, 2016, International journal of pediatric otorhinolaryngology.

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

D. Gašperíková, P. Seeman, L. Varga, 2021, Genes.

Author response for "Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by NGS gene panel and WES"

P. Seeman, Z. Čada, A. Mészárosová, 2020 .

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

M. Trková, P. Seeman, J. Laštůvková, 2012, International journal of pediatric otorhinolaryngology.

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

P. Seeman, R. Mazanec, I. Sakmaryová, 2009, Clinical genetics.

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

P. Seeman, P. Laššuthová, J. Neupauerová, 2016, Clinical genetics.

DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population

M. Trková, H. Štěpánková, P. Seeman, 2012, Clinical genetics.

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.

E. Seemanová, K. Sperling, P. Seeman, 2004, Pediatric neurology.

Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease

J. Reiss, P. Seeman, F. Laccone, 1995, Human mutation.

Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis

K. Štěrbová, P. Seeman, M. Havlovicová, 2018, Journal of Pediatric Neurology.

The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation

E. Seemanová, K. Chrzanowska, K. Sperling, 2022, Cancer reports.

[Nijmegen breakage syndrome in Slovakia].

E. Seemanová, K. Sperling, P. Seeman, 2004, Casopis lekaru ceskych.

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

P. Seeman, D. Stejskal, P. Laššuthová, 2013, Brain : a journal of neurology.

Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis

R. Jech, J. Valls-Solé, E. Muñoz, 2008, Neuroscience Letters.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

High frequency of SH3TC2 mutations in Czech HMSN I patients

P. Seeman, R. Mazanec, P. Laššuthová, 2011, Clinical genetics.

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

M. Trková, P. Seeman, M. Malíková, 2018, Journal of Human Genetics.

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

M. Trková, P. Seeman, P. Laššuthová, 2016, Journal of Human Genetics.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, W. Löscher, 2010, American journal of human genetics.

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

M. Trková, P. Seeman, M. Vyhnálek, 2019, Journal of Clinical Neuroscience.

MFN2 mutations cause compensatory mitochondrial DNA proliferation

P. Chinnery, P. Yu-Wai-Man, R. Horvath, 2012, Brain : a journal of neurology.

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

P. Seeman, P. Laššuthová, J. Neupauerová, 2016, Annals of human genetics.