Disease‐Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients von Mészárosová, Anna Uhrová, Grečmalová, Dagmar, Brázdilová, Michaela, Dvořáčková, Nina, Kalina, Zdeněk, Čermáková, Marie, Vávrová, Dagmar, Smetanová, Irena, Staněk, David, Seeman, Pavel

Volltext

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia von Mészárosová, Anna Uhrová, Putzová, Martina, Čermáková, Marie, Vávrová, Dagmar, Doležalová, Kateřina, Smetanová, Irena, Stejskal, David, Beetz, Christian, Seeman, Pavel

Volltext

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia von 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

Volltext

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, 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, Firouzabadi, Saghar Ghasemi, 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., Mau-Them, Frederic Tran, 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, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita

Volltext

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient von Uhrova Meszarosova, Anna, Safka Brozkova, Dana, Vyhnalek, Martin, Mazanec, Radim, Lastuvkova, Jana, Trkova, Marie, Bittoova, Martina, Soldatova, Inna, Seeman, Pavel

Volltext

Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7 von Somaya, Vinisha, Meszarosova, Anna Uhrova, Dusek, Petr

Volltext

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

Volltext

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

Volltext

Genetic testing in children enrolled in epilepsy surgery program. A real-life study von 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

Volltext

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? von 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

Volltext

Maďarská menšina na Slovensku: Od monarchie po unii von Uhrová-Mészárosová, Anna

Volltext bestellen

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations von Nagy, Sara, Pagnamenta, Alistair T, Cali, Elisa, Braakman, Hilde MH, 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

Volltext bestellen