Pavel Seeman
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View article: Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism Open
Biallelic variants in the FIG4 gene cause Charcot-Marie-Tooth type 4J (CMT4J) and Yunis-Varon syndrome. There is increasing evidence of phenotypic overlap between CMT4J and Yunis-Varon syndrome, which presents with peripheral neuropathy an…
View article: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Open
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the diseas…
View article: Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Open
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rar…
View article: The <i>NBN</i> founder mutation—Evidence for a country specific difference in age at cancer manifestation
The <i>NBN</i> founder mutation—Evidence for a country specific difference in age at cancer manifestation Open
Background Nijmegen breakage syndrome (NBS) is an autosomal‐recessive chromosome instability disorder characterized by, among others, hypersensitivity to X‐irradiation and an exceptionally high risk for lymphoid malignancy. The vast majori…
View article: Dominant <scp><i>KPNA3</i></scp> Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia
Dominant <span><i>KPNA3</i></span> Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia Open
Objective Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower‐extremity spasticity. Here, we set out to determine the genetic basis of an autosomal dominant, pure, and infantile‐onset fo…
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.
View article: The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region Open
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long…
View article: Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients Open
Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a large cohort of Czech patients with unknown cause of HN. Exom…
View article: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated…
View article: The genetic landscape of axonal neuropathies in the middle-aged and elderly
The genetic landscape of axonal neuropathies in the middle-aged and elderly Open
A detectable fraction of unexplained late-onset axonal neuropathies is genetically determined, by variants in either CMT genes or genes involved in other conditions that affect the peripheral nerves and can mimic a CMT phenotype. MME
View article: 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
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 Open
View article: Author response for "Spectrum and frequencies of non <scp> <i>GJB2</i> </scp> gene mutations in Czech patients with early non‐syndromic hearing loss detected by <scp>NGS</scp> gene panel and <scp>WES</scp>"
Author response for "Spectrum and frequencies of non <span> <i>GJB2</i> </span> gene mutations in Czech patients with early non‐syndromic hearing loss detected by <span>NGS</span> gene panel and <span>WES</span>" Open
View article: Author response for "Spectrum and frequencies of non <scp> <i>GJB2</i> </scp> gene mutations in Czech patients with early non‐syndromic hearing loss detected by <scp>NGS</scp> gene panel and <scp>WES</scp>"
Author response for "Spectrum and frequencies of non <span> <i>GJB2</i> </span> gene mutations in Czech patients with early non‐syndromic hearing loss detected by <span>NGS</span> gene panel and <span>WES</span>" Open
View article: Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity Open
View article: Prot2HG: a database of protein domains mapped to the human genome
Prot2HG: a database of protein domains mapped to the human genome Open
Genetic variation occurring within conserved functional protein domains warrants special attention when examining DNA variation in the context of disease causation. Here we introduce a resource, freely available at www.prot2hg.com, that ad…
View article: Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants Open
View article: Genetics of hereditary spastic paraplegias
Genetics of hereditary spastic paraplegias Open
Hereditární spastická paraparéza (HSP, též SPG) je klinicky i geneticky vysoce heterogenní závažné onemocnění centrálního motoneuronu, charakterizované progredující spasticitou a slabostí dolních končetin a poruchou chůze.Do dnešní doby by…
View article: Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness Open
View article: Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life Open
View article: Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 Open
View article: Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A Open
In summary, we provide evidence that cutaneous transcripts in patients with CMT1A serve as disease severity and progression biomarkers and, if implemented into clinical trials, they could markedly accelerate the development of a therapy fo…
View article: The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? Open
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populati…
View article: Hereditary spastic paraplegias: clinical and genetic aspects
Hereditary spastic paraplegias: clinical and genetic aspects Open
DNA laboratoř
View article: Hereditary motor neuropathies
Hereditary motor neuropathies Open
Klinika dětské neurologie 2. LF UK a FN Motol, DNA laboratoř
View article: Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis Open
View article: Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by<i>de novo</i>mutation in the<i>MORC2</i>gene
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by<i>de novo</i>mutation in the<i>MORC2</i>gene Open
It was with great interest that we read the article on advanced access by Sevilla et al. (2015) regarding axonal Charcot-Marie-Tooth (CMT2) disease caused by mutations in the MORC2 gene.Through whole-exome sequencing in a Spanish four gene…
View article: Biomarkers in Charcot-Marie-tooth disease 1a
Biomarkers in Charcot-Marie-tooth disease 1a Open
View article: Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies
Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies Open
Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neurop…
View article: MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin
MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin Open
We demonstrate different frequencies of the c.1331+2T>C mutation in hearing impaired Romanies from 3 Central European countries. In addition, our results provide support for the hypothesis of a possible common ancestor of the Slovak, Hunga…
View article: Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication Open
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been…