Tomas Foltan

Trial of <i>N</i> -Acetyl- <scp>l</scp> -Leucine in Niemann–Pick Disease Type C

Tatiana Brémovà-Ertl, Uma Ramaswami, Marion M. Brands et al. · New England Journal of Medicine · 2024 · 82 citations

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C

Tatiana Brémovà-Ertl, Tomas Foltan, Jordi Gascón‐Bayarri et al. · Journal of Neurology · 2021 · 58 citations · Full text

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients

Daniela Kluckova, Miriam Kolníková, Ľubica Lacinová et al. · Scientific Reports · 2020 · 29 citations · Full text

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

Miriam Kolníková, Petra Jungová, Martina Škopková et al. · Journal of Molecular Neuroscience · 2019 · 25 citations

Novel Pathogenic Variants, Autoimmune Disease, Genetic Disorder +9

DNM1 encephalopathy − atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

Miriam Kolníková, Martina Škopková, Denisa Ilenčíková et al. · Seizure · 2018 · 20 citations · Full text

Molecular Neuroscience, Neurological Disorder, Dnm1 Gene +7