ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Published in Orphanet journal of rare diseases (24.04.2023)
Published in Orphanet journal of rare diseases (24.04.2023)
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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
Cediel, Maria Lucia, Stawarski, Michal, Blanc, Xavier, Nosková, Lenka, Magner, Martin, Platzer, Konrad, Gburek-Augustat, Janina, Baldridge, Dustin, Constantino, John N., Ranza, Emmanuelle, Bettler, Bernhard, Antonarakis, Stylianos E.
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav
Published in Kidney international (01.02.2022)
Published in Kidney international (01.02.2022)
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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (07.01.2016)
Published in American journal of human genetics (07.01.2016)
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Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
van de Steeg, Evita, Stránecký, Viktor, Hartmannová, Hana, Nosková, Lenka, Hřebíček, Martin, Wagenaar, Els, van Esch, Anita, de Waart, Dirk R, Oude Elferink, Ronald P J, Kenworthy, Kathryn E, Sticová, Eva, al-Edreesi, Mohammad, Knisely, A S, Kmoch, Stanislav, Jirsa, Milan, Schinkel, Alfred H
Published in The Journal of clinical investigation (01.02.2012)
Published in The Journal of clinical investigation (01.02.2012)
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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
Bruel, Ange-Line, Ganga, Anil Kumar, Nosková, Lenka, Valenzuela, Irene, Martinovic, Jelena, Duffourd, Yannis, Zikánová, Marie, Majer, Filip, Kmoch, Stanislav, Mohler, Markéta, Sun, Jingbo, Sweeney, Lauren K, Martínez-Gil, Núria, Thauvin-Robinet, Christel, Breslow, David K
Published in Human molecular genetics (05.09.2023)
Published in Human molecular genetics (05.09.2023)
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia B, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, Dita, Vyleťal, Petr, Sovová, Jana, Cossette, Patrick, Andermann, Eva, Andermann, Frederick, Kmoch, Stanislav
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Kaplanová, Vilma, Sperl, Wolfgang, Houšt k, Josef, Paul, Jan, Vrbacký, Marek, Hansíková, Hana, Hejzlarová, Kate ina, Nosková, Lenka, Honzík, Tomáš, Drahota, Zden k, Zeman, Ji í, í ková, Alena, Kmoch, Stanislav, Kuss, Andreas W, Stránecký, Viktor, Mayr, Johannes A, Magner, Martin, Tesa ová, Markéta, Havlí ková, Vendula, Hartmannová, Hana, Ivánek, Robert
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene
Waterham, Hans R., Koster, Janet, Ebberink, Merel S., Jesina, Pavel, Zeman, Jiri, Noskova, Lenka, Kmoch, Stanislav, Devic, Perrine, Cheillan, David, Wanders, Ronald J.A., Ferdinandusse, Sacha
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder
Mušálková, Dita, Přistoupilová, Anna, Jedličková, Ivana, Hartmannová, Hana, Trešlová, Helena, Nosková, Lenka, Hodaňová, Kateřina, Bittmanová, Petra, Stránecký, Viktor, Jiřička, Václav, Langmajerová, Michaela, Woodbury‐Smith, Marc, Zarrei, Mehdi, Trost, Brett, Scherer, Stephen W., Bleyer, Anthony J., Vevera, Jan, Kmoch, Stanislav
Published in Genes, brain and behavior (01.02.2024)
Published in Genes, brain and behavior (01.02.2024)
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Rare copy number variation in extremely impulsively violent males
Vevera, Jan, Zarrei, Mehdi, Hartmannová, Hana, Jedličková, Ivana, Mušálková, Dita, Přistoupilová, Anna, Oliveriusová, Petra, Trešlová, Helena, Nosková, Lenka, Hodaňová, Kateřina, Stránecký, Viktor, Jiřička, Václav, Preiss, Marek, Příhodová, Kateřina, Šaligová, Jana, Wei, John, Woodbury‐Smith, Marc, Bleyer, Anthony J., Scherer, Stephen W., Kmoch, Stanislav
Published in Genes, brain and behavior (01.07.2019)
Published in Genes, brain and behavior (01.07.2019)
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Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report
Kunc, Lukáš, Havránková, Petra, Škorvánek, Matěj, Příhodová, Iva, Poláková, Kamila, Nosková, Lenka, Tesařová, Markéta, Honzík, Tomáš, Zech, Michael, Jech, Robert
Published in Clinical parkinsonism & related disorders (01.01.2024)
Published in Clinical parkinsonism & related disorders (01.01.2024)
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ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
Nosková, Lenka, Fukata, Yuko, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Fukata, Masaki, Kmoch, Stanislav
Published in Brain communications (01.11.2023)
Published in Brain communications (01.11.2023)
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Arithmetic Fuzzy Models
Stepnicka, Martin, De Baets, Bernard, Noskova, Lenka
Published in IEEE transactions on fuzzy systems (01.12.2010)
Published in IEEE transactions on fuzzy systems (01.12.2010)
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Mutations in ANTXR1 Cause GAPO Syndrome
Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing
Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Expression and processing of the TMEM70 protein
Hejzlarová, Kateřina, Tesařová, Markéta, Vrbacká-Čížková, Alena, Vrbacký, Marek, Hartmannová, Hana, Kaplanová, Vilma, Nosková, Lenka, Kratochvílová, Hana, Buzková, Jana, Havlíčková, Vendula, Zeman, Jiří, Kmoch, Stanislav, Houštěk, Josef
Published in Biochimica et biophysica acta (2011)
Published in Biochimica et biophysica acta (2011)
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