Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

von Dvorakova, Veronika, Magner, Martin, Honzik, Tomas
Veröffentlicht in Mol Genet Metab Rep (2014)

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

von Sikora, Jakub, Jedlickova, Ivana, Pristoupilova, Anna, Stranecky, Viktor, Honzik, Tomas
Veröffentlicht in Ann Clin Transl Neurol (2021)

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

von Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor
Veröffentlicht 2010

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic coppe...

von Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana
Veröffentlicht in J Inherit Metab Dis (2020)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

von Farolfi, Martina, Cechova, Anna, Ondruskova, Nina, Zidkova, Jana, Kousal, Bohdan, Hansikova, Hana, Honzik, Tomas, Liskova, Petra
Veröffentlicht in BMC Ophthalmol (2021)

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

von Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta
Veröffentlicht 2014

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

von Danhelovska, Tereza, Kolarova, Hana, Zeman, Jiri, Hansikova, Hana, Vaneckova, Manuela, Lambert, Lukas, Kucerova-Vidrova, Vendula, Berankova, Kamila, Honzik, Tomas, Tesarova, Marketa
Veröffentlicht in BMC Pediatr (2020)

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

von Slaba, Katerina, Noskova, Hana, Vesela, Petra, Tuckova, Jana, Jicinska, Hana, Honzik, Tomas, Hansikova, Hana, Kleiblova, Petra, Stourac, Petr, Jabandziev, Petr, Slaby, Ondrej, Prochazkova, Dagmar
Veröffentlicht in Front Genet (2020)

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

von Anteneová, Nicole, Kelifová, Silvie, Kolářová, Hana, Vondráčková, Alžběta, Tóthová, Iveta, Lišková, Petra, Magner, Martin, Zámečník, Josef, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta, Honzík, Tomáš
Veröffentlicht in Brain Sci (2020)

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

von Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
Veröffentlicht 2008

Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation

von Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Veröffentlicht 2014

Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients with Cholesteryl Ester Storage Disease

von Balwani, Manisha, Breen, Catherine, Enns, Gregory M, Deegan, Patrick B, Honzík, Tomas, Jones, Simon, Kane, John P, Malinova, Vera, Sharma, Reena, Stock, Eveline O, Valayannopoulos, Vassili, Wraith, J Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G
Veröffentlicht 2013

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

von Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Veröffentlicht in Mol Genet Metab Rep (2016)

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

von Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
Veröffentlicht in J Inherit Metab Dis (2020)

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

von Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Veröffentlicht in J Inherit Metab Dis (2021)

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

von Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B., Enns, Gregory M., Jones, Simon A., Kane, John P., Stock, Eveline O., Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S., Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A., Sharma, Reena, Twelves, Chris, Whitley, Chester B., Quinn, Anthony G.
Veröffentlicht 2014

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

von Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
Veröffentlicht 2014

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

von Radenkovic, Silvia, Bird, Matthew J., Emmerzaal, Tim L., Wong, Sunnie Y., Felgueira, Catarina, Stiers, Kyle M., Sabbagh, Leila, Himmelreich, Nastassja, Poschet, Gernot, Windmolders, Petra, Verheijen, Jan, Witters, Peter, Altassan, Ruqaiah, Honzik, Tomas, Eminoglu, Tuba F., James, Phillip M., Edmondson, Andrew C., Hertecant, Jozef, Kozicz, Tamas, Thiel, Christian, Vermeersch, Pieter, Cassiman, David, Beamer, Lesa, Morava, Eva, Ghesquière, Bart
Veröffentlicht in Am J Hum Genet (2019)

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

von Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H., Tripathy, Ratna, Traunbauer, Anna K., Hochstoeger, Tobias, Rosoklija, Gavril, Repic, Marco, Landler, Lukas, Stránecký, Viktor, Dürnberger, Gerhard, Keane, Thomas M., Zuber, Johannes, Adams, David J., Flint, Jonathan, Honzik, Tomas, Gut, Marta, Beltran, Sergi, Mechtler, Karl, Sherr, Elliott, Kmoch, Stanislav, Gut, Ivo, Keays, David A.
Veröffentlicht in Nat Neurosci (2018)

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

von Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Brocke Holmefjord, Katja S., Mork, Marit, Bowling, Francis, Cegielska, Jolanta Sykut, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K. Michael, Raymond, Kimiyo, Bakar, Nurulamin Abu, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda, He, Miao, Lefeber, Dirk, Thiel, Christian, Kozicz, Tamas, Morava, Eva
Veröffentlicht in Genet Med (2017)