Not logged inAdenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells (vol 484, pg 135, 2024)
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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 Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosisKmochova, 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 Share Save Share Save An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesZivna, 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 NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion DiseaseJedlickova, Ivana; Pristoupilova, Anna; Hulkova, Helena; Vrbacka, Alena; Stranecky, Viktor; Hruba, Eva; Jesina, Pavel; Honzik, Tomas; Hrdlicka, Ivan; Fremuth, Jiri; Pivovarcikova, Kristyna; Bitar, Ibrahim; Matej, Radoslav; Kmoch, Stanislav; Sikora, Jakub Share Save 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 Share Save Share Save Share Save Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansionvan den Ameele, Jelle; Jedlickova, Ivana; Pristoupilova, Anna; Sieben, Anne; Van Mossevelde, Sara; Ceuterick-de Groote, Chantal; Hulkova, Helena; Matej, Radoslav; Meurs, Alfred; Van Broeckhoven, Christine; Berkovic, Samuel F.; Santens, Patrick; Kmoch, Stanislav; Dermaut, Bart Share Save 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 NDUFAF6Hartmannova, 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 AnemiaBolar, 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 Share Save Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model (vol 138, pg 336, 2015)Martins, Carla; Hulkova, Helena; Dridi, Larbi; Dormoy-Raclet, Virginie; Grigoryeva, Lubov; Choi, Yoo; Langford-Smith, Alexander; Wilkinson, Fiona L.; Ohmi, Kazuhiro; DiCristo, Graziella; Hamel, Edith; Ausseil, Jerome; Cheillan, David; Moreau, Alain; Svobodova, Eva; Hajkova, Zuzana; Tesarova, Marketa; Hansikova, Hana; Bigger, Brian W.; Hrebicek, Martin; Pshezhetsky, Alexey V. Share Save CBS update: Structure, CBS replacement therapy, and H2S productionMajtan, Tomas; Bublil, Erez; Park, Insun; Carrillo, Richard; Ereno-Orbea, June; Alfonso Martinez-Cruz, Luis; Hulkova, Helena; Krijt, Jakub; Kozich, Viktor; Kruger, Warren; Kraus, Jan P. Share Save 
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