Not logged in Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease Musalkova, Dita; Radina, Martin; Kidd, Kendrah; Hartmannova, Hana; Treslova, Helena; Hodanova, Katerina; Vyletal, Petr; Vrbacka, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Kulhava, Lucie Rudl; Hricko, Jiri; Cajka, Tomas; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav Share Save
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy Kubanek, Milos; Binova, Jana; Piherova, Lenka; Krebsova, Alice; Kotrc, Martin; Hartmannova, Hana; Hodanova, Katerina; Musalkova, Dita; Stranecky, Viktor; Palecek, Tomas; Chaloupka, Anna; Grochova, Ilga; Krejci, Jan; Petrkova, Jana; Melenovsky, Vojtech; Kmoch, Stanislav; Kautzner, Josef Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav Share Save
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy Dudakova, Lubica; Noskova, Lenka; Kmoch, Stanislav; Filipec, Martin; Filous, Ales; Davidson, Alice E.; Toulis, Vasileios; Jedlickova, Jana; Skalicka, Pavlina; Hartmannova, Hana; Stranecky, Viktor; Drabova, Jana; Novotna, Drahuse; Havlovicova, Marketa; Sedlacek, Zdenek; Liskova, Petra Share Save
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022 Musalkova, Dita; Piherova, Lenka; Kwasny, Ondrej; Dindova, Zuzana; Stancik, Lubor; Hartmannova, Hana; Slama, Otomar; Peckova, Petra; Pargac, Josef; Minarik, Gabriel; Zima, Tomas; Bleyer, Anthony J.; Radina, Martin; Pohludka, Michal; Kmoch, Stanislav Share Save
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis Sikora, Jakub; Kmochova, Tereza; Musalkova, Dita; Pohludka, Michal; Prikryl, Petr; Hartmannova, Hana; Hodanova, Katerina; Treslova, Helena; Noskova, Lenka; Mrazova, Lenka; Stranecky, Viktor; Lunova, Mariia; Jirsa, Milan; Honsova, Eva; Dasari, Surendra; McPhail, Ellen D.; Leung, Nelson; Zivna, Martina; Bleyer, Anthony J.; Rychlik, Ivan; Rysava, Romana; Kmoch, Stanislav Share Save
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, Drahomira; Vrbacka, Alena; Pristoupilova, 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.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
POLRMT mutations impair mitochondrial transcription causing neurological disease Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W. Share Save
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing Jedlickova, Ivana; Cadieux-Dion, Maxime; Pristoupilova, Anna; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Baresova, Veronika; Hulkova, Helena; Sikora, Jakub; Noskova, Lenka; Musalkova, Dita; Vyletal, Petr; Sovova, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav Share Save
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease Zivna, Martina; Kidd, Kendrah; Pristoupilova, Anna; Baresova, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Vrbacka, Alena; Vylet'al, Petr; Zivny, Jan; Votruba, Miroslav; Sovova, Jana; Hulkova, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomas; Viklicky, Ondrej; Rajnochova-Bloudickova, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav Share Save
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 Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav Share Save
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R.; Raes, Ann; Matthys, Erve; Sys, Emiel; Azou, Myriam; Gubler, Marie-Claire; Praet, Marleen; Van Camp, Guy; McFadden, Kelsey; Pediaditakis, Igor; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; Kidd, Kendrah; Bleyer, Anthony J.; Spong, Richard S.; Vande Walle, Johan; Mortier, Geert; Brunner, Han; Van Laer, Lut; Kmoch, Stanislav; Katsanis, Nicholas; Loeys, Bart L. Share Save
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; Noskova, Lenka; Pontikos, Nikolas; Hartmannova, Hana; Hodanova, Katerina; Stranecky, Viktor; Kozmik, Zbynek; 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. Share Save
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Kmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K. Share Save
Mutations in ANTXR1 Cause GAPO Syndrome Stranecky, Viktor; Hoischen, Alexander; Hartmannova, Hana; Zaki, Maha S.; Chaudhary, Amit; Zudaire, Enrique; Noskova, Lenka; Baresova, Veronika; Pristoupilova, Anna; Hodanova, Katerina; Sovova, Jana; Hulkova, Helena; Piherova, Lenka; Hehir-Kwa, Jayne Y.; de Silva, Deepthi; Senanayake, Manouri P.; Farrag, Sameh; Zeman, Jiri; Martasek, Pavel; Baxova, Alice; Afifi, Hanan H.; St Croix, Brad; Brunner, Han G.; Temtamy, Samia; Kmoch, Stanislav Share Save
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V Ehling, Rainer; Noskova, Lenka; Stranecky, Viktor; Hartmannova, Hana; Pristoupilova, Anna; Hodanova, Katerina; Benke, Thomas; Kovacs, Gabor G.; Stroebel, Thomas; Niedermueller, Ulrike; Wagner, Michaela; Nachbauer, Wolfgang; Janecke, Andreas; Budka, Herbert; Boesch, Sylvia; Kmoch, Stanislav Share Save
Localization and orientation of TMEM70 protein in the inner mitochondrial membrane Hejzlarova, K.; Kratochvilova, H.; Mracek, T.; Tesarova, M.; Vrbacka-Cizkova, A.; Vrbacky, M.; Hartmannova, H.; Kaplanova, V.; Noskova, L.; Buzkova, J.; Havlickova-Karbanova, V.; Zeman, J.; Kmoch, S.; Houstek, J. Share Save
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