Tomáš Honzík

Bioenergetic dysfunction and inflammation in hiPSC-derived astrocytes from m.14484T>C Leber’s Hereditary Optic Neuropathy

Wyn Firth, Ľubica Ďuďáková, Robert Dobrovolný, Tomáš Honzík et autres

gb, cz (code pays fourni par la source)

The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency

Kajus Merkevičius, Dmitrii Smirnov, Lea D. Schlieben, Rebecca Ganetzky et autres

lt, at, de, us, cn, jp, it, pl, dk, nl, sa, gb, ro, hr, es, ch, fr, tr, ie, pt, cz, lv, hu, be, ee, au, cl, bd, il (code pays fourni par la source)

Sequestration of the polyunsaturated fatty acids protects the cells with oxidative phosphorylation deficiency from ferroptosis

Guillermo Puertas-Frias, María José Saucedo-Rodríguez, Kristýna Čunátová, Lukáš Alán et autres

cz, us, es, it (code pays fourni par la source)

Corrigendum to “Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]”

Andrew C. Edmondson, Tomáš Honzík, Christina Lam, Katrin Õunap et autres

us, cz, ee (code pays fourni par la source)

Gene thepapy of (selected) neurological diseases

Jana Haberlová, Tomáš Honzík, Přemysl Jiruška

cz, hr (code pays fourni par la source)

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency

Sung Kweon Cho, Günter Schwarz, Velibor Tasić, Michaela Křížková et autres

us, kr, de, mk, cz (code pays fourni par la source)

A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants

Sophie Hordijk, Stijn A. Groten, Petra E. Bürgisser, Sebastiaan Laan et autres

nl, de, cz, be, gb, ca (code pays fourni par la source)

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future

Andrew C. Edmondson, Tomáš Honzík, Christina Lam, Katrin Õunap et autres

us, cz, ee, py (code pays fourni par la source)

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem et autres

be, de, us, it, es, cz, fr (code pays fourni par la source)

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová et autres

cz (code pays fourni par la source)

Author response for "Genetic and Structural Variations in Czech Patients With Congenital Myopathies"

Jana Zídková, Barbora Lauerová, Lívie Mensová, Tereza Kramářová et autres

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation

Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem et autres