Not logged inPlasma 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 .png)
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SaveA Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial FibrosisElhassan, 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 Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022Musalkova, 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 amyloidosisSikora, 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 Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutationsMusalkova, Dita; Majer, Filip; Kuchar, Ladislav; Luksan, Ondrej; Asfaw, Befekadu; Vlaskova, Hana; Storkanova, Gabriela; Reboun, Martin; Poupetova, Helena; Jahnova, Helena; Hulkova, Helena; Ledvinova, Jana; Dvorakova, Lenka; Sikora, Jakub; Jirsa, Milan; Vanier, Marie T.; Hrebicek, Martin Share Save Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingJedlickova, 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 Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiencyMusalkova, Dita; Sticova, Eva; Reboun, Martin; Sokolova, Jitka; Krijt, Jakub; Honzikova, Jitka; Gurka, Jiri; Neroldova, Magdalena; Honzik, Tomas; Zeman, Jiri; Jirsa, Milan; Dvorakova, Lenka; Hrebicek, Martin Share Save Share Save 
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