Researcher profile · Semantic Scholar

S. Mattošová

h-index: 2
Works: 9
Citations: 40

Most-cited papers

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene
M. Kolniková, P. Jungová, M. Škopková, Tomas Foltan +3 more
2019Journal of Molecular Neuroscience21 citations
Semantic Scholar
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
S. Mattošová, J. Chandoga, A. Hlavatá, J. Šaligová +1 more
2015The Israel Medical Association journal : IMAJ14 citations
Semantic Scholar
Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias
L. Kotysova, S. Mattošová, J. Chandoga
2015Bratislava Medical Journal2 citations Open access
Semantic Scholar
Late onset form of Pompe disease
S. Mattošová, A. Hlavatá, P. Špalek, L. Kotysova +2 more
2015Bratislava Medical Journal2 citations Open access
Semantic Scholar
Laboratory and Clinical Findings Imitating Myotonic Dystrophy in the Patient with Late-Onset Pompe Disease
I. Urminska, S. Mattošová, I. Mečiarová, J. Chandoga +1 more
2015Journal of Neuromuscular Diseases1 citations Open access
Semantic Scholar
Cerebrotendinous xanthomatosis in Slovak patients – experience with clinical manifestations and diagnostic approaches
P. Ďurina, A. Bandura, J. Chandoga, M. Juhosová +11 more
2026Neurogenetics0 citations Open access
Semantic Scholar
Pompe's disease - when nothing standard applies
V. Holecová, Laura Grossmanová, Ján Kothaj, Martina Martiníková +4 more
2023Neurologie pro praxi0 citations
Semantic Scholar
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment
Katarína Juríčková, P. Jungová, R. Petrovič, S. Mattošová +3 more
2022Journal of Personalized Medicine0 citations Open access
Semantic Scholar
Pompeho choroba - kazuistika juvenilnej formy
K. Okáľová, S. Mattošová, J. Chandoga, V. Holecová
20150 citations
Semantic Scholar

L. Kotysova

×2

P. Špalek×2