Not logged in Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries Magner, Martin; Saho, Robert; Slavikova, Petra; Bakalar, Radovan; Dvorakova, Lenka; Peskova, Karolina; Ramadza, Danijela Petkovic; Baric, Ivo; Ilic, Nikola; Cechova, Anna; Reboun, Martin; Vlaskova, Hana; Kelifova, Silvie; Jesina, Pavel; Prochazkova, Dagmar; Hansikova, Hana; Honzik, Tomas; Zeman, Jiri Share Save
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Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis Stufkova, Hana; Majer, Filip; Hanak, Petr; Noskova, Lenka; Stranecky, Viktor; Rychtarova, Lucie; Ferdinandusse, Sacha; Krizova, Jana; Hansikova, Hana; Tesarova, Marketa; Kmoch, Stanislav; Kolarova, Hana; Honzik, Tomas; Sikora, Jakub Share Save
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Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis Kopcilova, Johana; Ptackova, Hana; Kramarova, Tereza; Fajkusova, Lenka; Reblova, Kamila; Zeman, Jiri; Honzik, Tomas; Zdrazilova, Lucie; Zamecnik, Josef; Balazova, Patricia; Viestova, Karin; Kolnikova, Miriam; Hansikova, Hana; Zidkova, Jana 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
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Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG Zdrazilova, L.; Rakosnikova, T.; Himmelreich, N.; Ondruskova, N.; Pasak, M.; Vanisova, M.; Volfova, N.; Honzik, T.; Thiel, C.; Hansikova, H. Share Save
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches Himmelreich, Nastassja; Kikul, Frauke; Zdrazilova, Lucie; Honzik, Tomas; Hecker, Andreas; Poschet, Gernot; Luechtenborg, Christian; Bruegger, Britta; Strahl, Sabine; Buerger, Friederike; Okun, Juergen G.; Hansikova, Hana; Thiel, Christian Share Save
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 Share Save
EARLY MITOCHONDRIAL DYSFUNCTION IN PERIPHERAL BLOOD MONONUCLEAR CELLS IN PROGRESSION OF HUNTINGTON'S DISEASE Stufkova, Hana; Pasak, Michael; Sedlackova, Daniela; Vanisova, Marie; Roth, Jan; Liskova, Irena; Marte, Eikenes; Eide, Lars; Klempir, Jiri; Hansikova, Hana Share Save
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New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity Talianova, Veronika; Kejik, Zdenek; Kaplanek, Robert; Vesela, Katerina; Abramenko, Nikita; Lacina, Lukas; Strnadova, Karolina; Dvorankova, Barbora; Martasek, Pavel; Masarik, Michal; Megova, Magdalena Houdova; Busek, Petr; Krizova, Jana; Zdrazilova, Lucie; Hansikova, Hana; Vlcak, Erik; Filimonenko, Vlada; Sedo, Aleksi; Smetana, Karel, Jr.; Jakubek, Milan Share Save
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CIRCHTT, A CIRCULAR RNA FROM THE HUNTINGTON'S DISEASE GENE LOCUS: FUNCTIONAL CHARACTERIZATION AND POSSIBLE IMPLICATIONS FOR DISEASE MODULATION Doring, Jessica; Ferrari, Simone; Monziani, Alan; Pegorar, Claudio Oss; Tripathi, Takshashila; Di Leva, Francesca; Kerschbamer, Emanuela; Mattis, Virginia B.; Dieterich, Christoph; Dassi, Erik; Wheeler, Vanessa C.; Hansikova, Hana; Ellederova, Zdenka; Wilusz, Jeremy E.; Biagioli, Marta Share Save
CAN CUMULATION OF NEURODEGENERATIVE DISORDERS SIGNIFICANTLY PROMOTE MITOCHONDRIAL DYSFUNCTION IN CULTURED SKIN FIBROBLASTS? Vanisova, Marie; Matej, Radoslav; Rusina, Robert; Stufkova, Hana; Kohoutova, Michaela; Danhelovska, Tereza; Klempir, Jiri; Roth, Jan; Klempir, Jiri; Hansikova, Hana Share Save
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save
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