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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Journal Article
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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Journal Article
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature
Mazurova, Stella, Magner, Martin, Kucerova-Vidrova, Vendula, Vondrackova, Alzbeta, Stranecky, Viktor, Pristoupilova, Anna, Zamecnik, Josef, Hansikova, Hana, Zeman, Jiri, Tesarova, Marketa, Honzik, Tomas
Published in Cardiology in the young (01.07.2017)
Published in Cardiology in the young (01.07.2017)
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New genes emerging for colorectal cancer predisposition
Esteban-Jurado, Clara, Garre, Pilar, Vila, Maria, Lozano, Juan José, Pristoupilova, Anna, Beltrán, Sergi, Abulí, Anna, Muñoz, Jenifer, Balaguer, Francesc, Ocaña, Teresa, Castells, Antoni, Piqué, Josep M, Carracedo, Angel, Ruiz-Ponte, Clara, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi
Published in World journal of gastroenterology : WJG (28.02.2014)
Published in World journal of gastroenterology : WJG (28.02.2014)
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Journal Article
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
Ne oldová, Magdaléna, Stránecký, Viktor, Hoda ová, Kate ina, Hartmannová, Hana, Piherová, Lenka, P istoupilová, Anna, Mrázová, Lenka, Vrablík, Michal, Adámková, V ra, Hubá ek, Jaroslav A, Jirsa, Milan, Kmoch, Stanislav
Published in Pharmacogenomics (01.08.2016)
Published in Pharmacogenomics (01.08.2016)
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Journal Article
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
Ehling, Rainer, Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Hodaňová, Kateřina, Benke, Thomas, Kovacs, Gabor G, Ströbel, Thomas, Niedermüller, Ulrike, Wagner, Michaela, Nachbauer, Wolfgang, Janecke, Andreas, Budka, Herbert, Boesch, Sylvia, Kmoch, Stanislav
Published in Journal of the neurological sciences (15.03.2013)
Published in Journal of the neurological sciences (15.03.2013)
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Journal Article
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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Journal Article
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 (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Journal Article
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Journal Article
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H, Tripathy, Ratna, Traunbauer, Anna K, Hochstoeger, Tobias, Rosoklija, Gavril, Repic, Marco, Landler, Lukas, Stránecký, Viktor, Dürnberger, Gerhard, Keane, Thomas M, Zuber, Johannes, Adams, David J, Flint, Jonathan, Honzik, Tomas, Gut, Marta, Beltran, Sergi, Mechtler, Karl, Sherr, Elliott, Kmoch, Stanislav, Gut, Ivo, Keays, David A
Published in Nature neuroscience (01.02.2018)
Published in Nature neuroscience (01.02.2018)
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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D, Crocker, John F S, Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová, Anna, Barešová, Veronika, Jedličková, Ivana, Živná, Martina, Sovová, Jana, Hůlková, Helena, Robins, Vicki, Vrbacký, Marek, Pecina, Petr, Kaplanová, Vilma, Houštěk, Josef, Mráček, Tomáš, Thibeault, Yves, Bleyer, Anthony J, Kmoch, Stanislav
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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Journal Article
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
Vylet’al, Petr, Kidd, Kendrah, Ainsworth, Hannah C., Springer, Drahomíra, Vrbacká, Alena, Přistoupilová, Anna, Hughey, Rebecca P., Alper, Seth L., Lennon, Niall, Harrison, Steven, Harden, Maegan, Robins, Victoria, Taylor, Abbigail, Martin, Lauren, Howard, Katrice, Bitar, Ibrahim, Langefeld, Carl D., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.
Published in American journal of nephrology (01.07.2021)
Published in American journal of nephrology (01.07.2021)
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Journal Article
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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Journal Article
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Vyleťal, Petr, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B, Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C, Alper, Seth L, Greka, Anna, Bleyer, Anthony J, Kmoch, Stanislav
Published in Journal of the American Society of Nephrology (01.09.2018)
Published in Journal of the American Society of Nephrology (01.09.2018)
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Journal Article
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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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
Berkovic, Samuel F, Staropoli, John F, Carpenter, Stirling, Oliver, Karen L, Kmoch, Stanislav, Anderson, Glenn W, Damiano, John A, Hildebrand, Michael S, Sims, Katherine B, Cotman, Susan L, Bahlo, Melanie, Smith, Katherine R, Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E
Published in Neurology (09.08.2016)
Published in Neurology (09.08.2016)
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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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Journal Article
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H, Tripathy, Ratna, Traunbauer, Anna K, Hochstoeger, Tobias, Rosoklija, Gavril, Repic, Marco, Landler, Lukas, Stránecký, Viktor, Dürnberger, Gerhard, Keane, Thomas M, Zuber, Johannes, Adams, David J, Flint, Jonathan, Honzik, Tomas, Gut, Marta, Beltran, Sergi, Mechtler, Karl, Sherr, Elliott, Kmoch, Stanislav, Gut, Ivo, Keays, David A
Published in Nature neuroscience (01.08.2018)
Published in Nature neuroscience (01.08.2018)
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A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., Živná, Martina
Published in Kidney international reports (01.07.2024)
Published in Kidney international reports (01.07.2024)
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