Search Results - "Meszarosová, Anna Uhrová"

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes by 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

“…We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next‐generation…”
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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 by Safka Brozkova, Dana, Poisson Marková, Simona, Mészárosová, Anna Uhrová, Jenčík, Ján, Čejnová, Vlasta, Čada, Zdeněk, Laštůvková, Jana, Rašková, Dagmar, Seeman, Pavel

“…Non‐syndromic autosomal recessive hearing loss is an extremely heterogeneous disease caused by mutations in more than 80 genes. We examined Czech patients with…”
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Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients by Mészárosová, Anna Uhrová, Grečmalová, Dagmar, Brázdilová, Michaela, Dvořáčková, Nina, Kalina, Zdeněk, Čermáková, Marie, Vávrová, Dagmar, Smetanová, Irena, Staněk, David, Seeman, Pavel

“…Summary Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron…”
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SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia by Mészárosová, Anna Uhrová, Putzová, Martina, Čermáková, Marie, Vávrová, Dagmar, Doležalová, Kateřina, Smetanová, Irena, Stejskal, David, Beetz, Christian, Seeman, Pavel

“…The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort…”
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A progressive KY myopathy could be caused by a missense pathogenic variant by Uhrova‐Meszarosova, Anna, Vlckova, Marketa, Rennerova, Ladislava, Haberlova, Jana, Zamecnik, Josef, Seeman, Pavel, Safka‐Brozkova, Dana

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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 by Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel

“…Background The Roma are a European ethnic minority threatened by several recessive diseases. Variants in MANBA cause a rare lysosomal storage disorder named…”
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Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia by 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

“…Objective Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower‐extremity spasticity. Here, we set out to…”
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by 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

“…Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We…”
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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient by Uhrova Meszarosova, Anna, Safka Brozkova, Dana, Vyhnalek, Martin, Mazanec, Radim, Lastuvkova, Jana, Trkova, Marie, Bittoova, Martina, Soldatova, Inna, Seeman, Pavel

“…•Novel variant c.130C > T (p.Pro44Ser) in homozygous status in exon 1 of the FA2H gene is described.•The first Czech patient with SPG type 35 was…”
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The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region by 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

“…Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients…”
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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations by 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

“…Abstract A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of…”
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Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7 by Somaya, Vinisha, Meszarosova, Anna Uhrova, Dusek, Petr

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Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found by Meszarosova, Anna Uhrova, Seeman, Pavel, Jencik, Jan, Drabova, Jana, Cibochova, Renata, Stellmachova, Julia, Safka Brozkova, Dana

“…•Two first Czech Roma patients with hereditary spastic paraplegia genetically diagnosed.•Third patient/family with pure phenotype in SPG77 described…”
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SPG11: clinical and genetic features of seven Czech patients and literature review by 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

“…SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients…”
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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 by Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel

“…The Roma are a European ethnic minority threatened by several recessive diseases. We now report on further 10 beta-mannosidosis patients of Roma origin from…”
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Genetic testing in children enrolled in epilepsy surgery program. A real-life study by 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

“…Although genetic causes of drug-resistant focal epilepsy and selected focal malformations of cortical development (MCD) have been described, a limited number…”
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Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers by Meszarosova, Anna Uhrova, Lastuvkova, Jana, Rennerova, Ladislava, Hitka, Patrik, Cihlar, Filip, Seeman, Pavel, Safka Brozkova, Dana

“…Recently described Alkuraya-Kučinskas syndrome (ALKKUCS) clinically presented with severe congenital hydrocephalus, severe brain hypoplasia and other multiple…”
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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? by 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

“…Variants of GATOR1-genes represent a recognised cause of focal cortical dysplasia (FCD), the most common structural aetiology in paediatric drug-resistant…”
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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia by 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

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Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study by 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

“…Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation…”
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