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

por Farolfi, Martina, Cechova, Anna, Ondruskova, Nina, Zidkova, Jana, Kousal, Bohdan, Hansikova, Hana, Honzik, Tomas, Liskova, Petra
Publicado 2021

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

por Rákosníková, Tereza, Kelifová, Silvie, Štufková, Hana, Lokvencová, Kateřina, Lišková, Petra, Kousal, Bohdan, Honzík, Tomáš, Hansíková, Hana, Martínek, Václav, Tesařová, Markéta
Publicado 2023

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

por Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, Liskova, Petra
Publicado 2021

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

por Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F., Michaelides, Michel, Hardcastle, Alison J., Liskova, Petra
Publicado 2014

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr...

por Rücklová, Kristina, Hrubá, Eva, Pavlíková, Markéta, Hanák, Petr, Farolfi, Martina, Chrastina, Petr, Vlášková, Hana, Kousal, Bohdan, Smolka, Vratislav, Foltenová, Hana, Adam, Tomáš, Friedecký, David, Ješina, Pavel, Zeman, Jiří, Kožich, Viktor, Honzík, Tomáš
Publicado 2021

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

por Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N., Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Publicado 2022

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

por Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride
Publicado 2022