Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders von Janečková, Hana, Hron, Karel, Wojtowicz, Petr, Hlídková, Eva, Barešová, Anna, Friedecký, David, Žídková, Lenka, Hornik, Petr, Behúlová, Darina, Procházková, Dagmar, Vinohradská, Hana, Pešková, Karolína, Bruheim, Per, Smolka, Vratislav, Šťastná, Sylvie, Adam, Tomáš

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Propopulační opatření jako možný nástroj k budoucímu vyššímu výběru daní von Barešová, Anna

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis von 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

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing von 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

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes von Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, 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.

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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 von 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

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Mutations in ANTXR1 Cause GAPO Syndrome von 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

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Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations von 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.

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Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy von Dvela-Levitt, Moran, Kost-Alimova, Maria, Emani, Maheswarareddy, Kohnert, Eva, Thompson, Rebecca, Sidhom, Eriene-Heidi, Rivadeneira, Ana, Sahakian, Nareh, Roignot, Julie, Papagregoriou, Gregory, Montesinos, Monica S., Clark, Abbe R., McKinney, David, Gutierrez, Juan, Roth, Mark, Ronco, Lucienne, Elonga, Esther, Carter, Todd A., Gnirke, Andreas, Melanson, Michelle, Hartland, Kate, Wieder, Nicolas, Hsu, Jane C.-H., Deltas, Constantinos, Hughey, Rebecca, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina, Barešova, Veronika, Kota, Savithri, Schlondorff, Johannes, Heiman, Myriam, Alper, Seth L., Wagner, Florence, Weins, Astrid, Golub, Todd R., Lander, Eric S., Greka, Anna

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Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia von Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, 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, Přistoupilová, Anna, Hodaňová, Kateřina, Vylet'al, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J, Spong, Richard S, Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome von Pelet, Anna, Skopova, Vaclava, Steuerwald, Ulrike, Baresova, Veronika, Zarhrate, Mohammed, Plaza, Jean-Marc, Hnizda, Ales, Krijt, Matyas, Souckova, Olga, Wibrand, Flemming, Andorsdóttir, Guðrið, Joensen, Fróði, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Lyonnet, Stanislas, Zikanova, Marie

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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease von 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

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis von 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

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes von Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, 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.

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes von 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

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A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis von 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

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