HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
Šafka Brožková, Dana, Paulasová Schwabová, Jaroslava, Neupauerová, Jana, Sabová, Jana, Krůtová, Marcela, Peřina, Vladimír, Trková, Marie, Laššuthová, Petra, Seeman, Pavel
Published in Journal of human genetics (01.03.2017)
Published in Journal of human genetics (01.03.2017)
Get full text
Journal 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
Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel
Published in Orphanet journal of rare diseases (26.08.2020)
Published in Orphanet journal of rare diseases (26.08.2020)
Get full text
Journal Article
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region
Safka Brozkova, Dana, Uhrova Meszarosova, Anna, Lassuthova, Petra, Varga, Lukáš, Staněk, David, Borecká, Silvia, Laštůvková, Jana, Čejnová, Vlasta, Rašková, Dagmar, Lhota, Filip, Gašperíková, Daniela, Seeman, Pavel
Published in Genes (01.05.2021)
Published in Genes (01.05.2021)
Get full text
Journal Article
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
Meszarosova, Anna Uhrova, Seeman, Pavel, Jencik, Jan, Drabova, Jana, Cibochova, Renata, Stellmachova, Julia, Safka Brozkova, Dana
Published in Neuroscience letters (16.03.2020)
Published in Neuroscience letters (16.03.2020)
Get full text
Journal Article
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Safka Brozkova, Dana, Deconinck, Tine, Griffin, Laurie Beth, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R, Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A, De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
Get full text
Journal Article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia
Schob, Claudia, Hempel, Maja, Safka Brozkova, Dana, Jiang, Huafang, Kim, Soo Yeon, Batzir, Nurit Assia, Orenstein, Naama, Bierhals, Tatjana, Johannsen, Jessika, Uhrova Meszarosova, Anna, Chae, Jong‐Hee, Seeman, Pavel, Woidy, Mathias, Fang, Fang, Kubisch, Christian, Kindler, Stefan, Denecke, Jonas
Published in Annals of neurology (01.11.2021)
Published in Annals of neurology (01.11.2021)
Get full text
Journal Article
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
Safka Brozkova, Dana, Poisson Marková, Simona, Mészárosová, Anna Uhrová, Jenčík, Ján, Čejnová, Vlasta, Čada, Zdeněk, Laštůvková, Jana, Rašková, Dagmar, Seeman, Pavel
Published in Clinical genetics (01.12.2020)
Published in Clinical genetics (01.12.2020)
Get full text
Journal Article
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
Uhrova Meszarosova, Anna, Safka Brozkova, Dana, Vyhnalek, Martin, Mazanec, Radim, Lastuvkova, Jana, Trkova, Marie, Bittoova, Martina, Soldatova, Inna, Seeman, Pavel
Published in Journal of clinical neuroscience (01.01.2019)
Published in Journal of clinical neuroscience (01.01.2019)
Get full text
Journal Article
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Laššuthová, Petra, Šafka Brožková, Dana, Krůtová, Marcela, Neupauerová, Jana, Haberlová, Jana, Mazanec, Radim, Dřímal, Pavel, Seeman, Pavel
Published in Orphanet journal of rare diseases (22.08.2016)
Published in Orphanet journal of rare diseases (22.08.2016)
Get full text
Journal Article
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients
Marková, Simona, Šafka Brožková, Dana, Meszárosová, Anna, Neupauerová, Jana, Groh, Daniel, Křečková, Gabriela, Laššuthová, Petra, Seeman, Pavel
Published in International journal of pediatric otorhinolaryngology (01.07.2016)
Published in International journal of pediatric otorhinolaryngology (01.07.2016)
Get full text
Journal Article
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
Šafka Brožková, Dana, Nevšímalová, Soňa, Mazanec, Radim, Rautenstrauss, Bernd, Seeman, Pavel
Published in Neuromuscular disorders : NMD (01.08.2012)
Published in Neuromuscular disorders : NMD (01.08.2012)
Get full text
Journal Article
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
Laššuthová, Petra, Šafka Brožková, Dana, Krůtová, Marcela, Mazanec, Radim, Züchner, Stephan, Gonzalez, Michael A, Seeman, Pavel
Published in Brain (London, England : 1878) (01.04.2016)
Published in Brain (London, England : 1878) (01.04.2016)
Get full text
Journal Article
Confirmation of the GNB4 gene as causal for charcot-marie-tooth disease by a novel de novo mutation in a czech patient
Petra, Laššuthová, Dana, Šafka Brožková, Jana, Neupauerová, Marcela, Krůtová, Radim, Mazanec, Pavel, Seeman
Published in Neuromuscular disorders : NMD (01.01.2017)
Published in Neuromuscular disorders : NMD (01.01.2017)
Get full text
Journal Article
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
Marková, Simona Poisson, Brožková, Dana Šafka, Laššuthová, Petra, Mészárosová, Anna, Krůtová, Marcela, Neupauerová, Jana, Rašková, Dagmar, Trková, Marie, Staněk, David, Seeman, Pavel
Published in Genetic testing and molecular biomarkers (01.02.2018)
Published in Genetic testing and molecular biomarkers (01.02.2018)
Get more information
Journal Article
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin
Mašindová, Ivica, Šoltýsová, Andrea, Varga, Lukáš, Mátyás, Petra, Ficek, Andrej, Hučková, Miloslava, Sůrová, Martina, Šafka-Brožková, Dana, Anwar, Saima, Bene, Judit, Straka, Slavomír, Janicsek, Ingrid, Ahmed, Zubair M, Seeman, Pavel, Melegh, Béla, Profant, Milan, Klimeš, Iwar, Riazuddin, Saima, Kádasi, Ľudevít, Gašperíková, Daniela
Published in PloS one (17.04.2015)
Published in PloS one (17.04.2015)
Get full text
Journal Article
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
Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel
Published in Orphanet journal of rare diseases (26.08.2020)
Published in Orphanet journal of rare diseases (26.08.2020)
Get full text
Journal Article
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
BROŽKOVÁ, DANA ŠAFKA, POSÁDKA, JAN, LAŠŠUTHOVÁ, PETRA, MAZANEC, RADIM, HABERLOVÁ, JANA, ŠIŠKOVÁ, DANA, SAKMARYOVÁ, IVA, NEUPAUEROVÁ, JANA, SEEMAN, PAVEL
Published in Molecular medicine reports (01.12.2013)
Published in Molecular medicine reports (01.12.2013)
Get full text
Journal Article