Lenka Nosková

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 3

Top Topics

Clinical Practice

Endoplasmic Reticulum Stress

Top Venues

Molecular genetics & genomic medicine

Human molecular genetics

Brain communications

Charles University (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Charles University

Czechia

PHD :: First Faculty of Medicine

Publications

Lenka Nosková, Yuko Fukata, Viktor Stránecký, Jana Šaligová, Oxana Bodnárová, Mária Giertlová, Masaki Fukata, Stanislav Kmoch
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder. Brain communications 5 (6) (2023)
Ange-Line Bruel, Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jelena Martinovic, Yannis Duffourd, Marie Zikánová, Filip Majer, Stanislav Kmoch, Markéta Mohler, Jingbo Sun, Lauren K Sweeney, Núria Martínez-Gil, Christel Thauvin-Robinet, David K Breslow
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. Human molecular genetics (2023)
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Molecular genetics & genomic medicine 8 (7) (2020)