Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
Čopíková, Jana, Paděrová, Jana, Románková, Věra, Havlovicová, Markéta, Balaščáková, Miroslava, Zelinová, Michaela, Vejvalková, Šárka, Simandlová, Martina, Štěpánková, Jana, Hořínová, Věra, Kantorová, Eva, Křečková, Gabriela, Pospíšilová, Jana, Boday, Arpád, Meszarosová, Anna Uhrová, Turnovec, Marek, Votýpka, Pavel, Lišková, Petra, Kremlíková Pourová, Radka
Published in Annals of human genetics (01.09.2020)
Published in Annals of human genetics (01.09.2020)
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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
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)
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Journal Article
Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
Mészárosová, Anna Uhrová, Grečmalová, Dagmar, Brázdilová, Michaela, Dvořáčková, Nina, Kalina, Zdeněk, Čermáková, Marie, Vávrová, Dagmar, Smetanová, Irena, Staněk, David, Seeman, Pavel
Published in Annals of human genetics (01.11.2017)
Published in Annals of human genetics (01.11.2017)
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Journal Article
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
Mészárosová, Anna Uhrová, Putzová, Martina, Čermáková, Marie, Vávrová, Dagmar, Doležalová, Kateřina, Smetanová, Irena, Stejskal, David, Beetz, Christian, Seeman, Pavel
Published in Journal of human genetics (01.10.2016)
Published in Journal of human genetics (01.10.2016)
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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)
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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)
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Journal Article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
Published in Brain (London, England : 1878) (22.06.2021)
Published in Brain (London, England : 1878) (22.06.2021)
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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)
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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)
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Journal Article
Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7
Somaya, Vinisha, Meszarosova, Anna Uhrova, Dusek, Petr
Published in Neurological sciences (01.02.2024)
Published in Neurological sciences (01.02.2024)
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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)
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Journal Article
SPG11: clinical and genetic features of seven Czech patients and literature review
Doleckova, Kristyna, Roth, Jan, Stellmachova, Julia, Gescheidt, Tomas, Sigut, Vladimir, Houska, Pavel, Jech, Robert, Zech, Michael, Vyhnalek, Martin, Vyhnalkova, Emilie, Seeman, Pavel, Meszarosova, Anna Uhrova
Published in Neurological research (New York) (04.05.2022)
Published in Neurological research (New York) (04.05.2022)
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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)
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Journal Article
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
Straka, Barbora, Splitkova, Barbora, Vlckova, Marketa, Tesner, Pavel, Rezacova, Hana, Krskova, Lenka, Koblizek, Miroslav, Kyncl, Martin, Maulisova, Alice, Bukacova, Katerina, Uhrova-Meszarosova, Anna, Musilova, Alena, Kudr, Martin, Ebel, Matyas, Belohlavkova, Anezka, Jahodova, Alena, Liby, Petr, Tichy, Michal, Jezdik, Petr, Zamecnik, Josef, Aronica, Eleonora, Krsek, Pavel
Published in European journal of paediatric neurology (01.11.2023)
Published in European journal of paediatric neurology (01.11.2023)
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Journal Article
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., Krsek, Pavel
Published in European journal of paediatric neurology (01.01.2021)
Published in European journal of paediatric neurology (01.01.2021)
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Journal Article
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita
Published in Brain (London, England : 1878) (04.09.2021)
Published in Brain (London, England : 1878) (04.09.2021)
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Journal Article
Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Nagy, Sara, Pagnamenta, Alistair T, Cali, Elisa, Braakman, Hilde M H, Wijntjes, Juerd, Kusters, Benno, Gotkine, Marc, Elpeleg, Orly, Meiner, Vardiella, Lenberg, Jerica, Wigby, Kristen, Friedman, Jennifer, Perry, Luke D, Rossor, Alexander M, Uhrova Meszarosova, Anna, Thomasova, Dana, Jacob, Saiju, O'Driscoll, Mary, De Simone, Lenika, Grange, Dorothy K, Sommerville, Richard, Firoozfar, Zahra, Alavi, Shahryar, Mazaheri, Mahta, Parmar, Jevin M, Lamont, Phillipa J, Pini, Veronica, Sarkozy, Anna, Muntoni, Francesco, Ravenscroft, Gianina, Jones, Eppie, O'Rourke, Declan, Nel, Melissa, Heckmann, Jeannine M, Kvalsund, Michelle, Kapapa, Musambo M, Wa Somwe, Somwe, Bearden, David R, Çakar, Arman, Childs, Anne-Marie, Horvath, Rita, Reilly, Mary M, Houlden, Henry, Maroofian, Reza
Published in Brain communications (30.10.2024)
Published in Brain communications (30.10.2024)
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Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study
Straka, Barbora, Hermanovska, Barbora, Krskova, Lenka, Zamecnik, Josef, Vlckova, Marketa, Balascakova, Miroslava, Tesner, Pavel, Jezdik, Petr, Tichy, Michal, Kyncl, Martin, Musilova, Alena, Lassuthova, Petra, Marusic, Petr, Krsek, Pavel
Published in Neurology. Genetics (01.10.2022)
Published in Neurology. Genetics (01.10.2022)
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