P195 – 2968: Novel mutations of the CDKL5 gene in patients with epileptic encephalopathy
Kolníková, M, Bognar, C, Foltán, T, Švecová, L, Kádaši, L, Ilenèíková, D, Sýkora, P
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia
Konkoľová, J., Petrovič, R., Chandoga, J., Repiský, M., Zelinková, H., Kršiaková, J., Kolníková, M., Kantarská, D., Šutovský, S., Böhmer, D.
Published in Gene (15.08.2015)
Published in Gene (15.08.2015)
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NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome
Kolníková, M, Sýkora, P, Oríšek, P, Payerová, J, Zeman, J, Hansíková, H
Published in European journal of paediatric neurology (2008)
Published in European journal of paediatric neurology (2008)
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Journal Article
Ketogenic diet in the treatment of refractory epilepsy
Kolníková, M, Sýkora, P, Klčová, V, Bzdúch, V, Fabríciová, K, Behúlová, D
Published in European journal of paediatric neurology (2008)
Published in European journal of paediatric neurology (2008)
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Journal Article
Vagal nerve stimulation for drug-resistant epilepsy: Efficacy and adverse events in an epilepsy centre with long-term follow-up
Timárová, G., Ramos Rivera, G.A., Kolníková, M., Novotný, M., Šteňo, A., Sykora, P., Šteňo, J.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Journal Article
Glucose transporter type 1 (GLUT-1) deficiency
Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V
Published in Bratislavské lékarské listy (2008)
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Published in Bratislavské lékarské listy (2008)
Journal Article
Glucose transporter type 1 (GLUT-1) deficiency
Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V
Published in Bratislavské lékarské listy (2008)
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Published in Bratislavské lékarské listy (2008)
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Rare disease day, conference 29.2.2012 - Poster Session
Published in Acta Facultatis Pharmaceuticae Universitatis Comenianae
(01.01.2012)
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Published in Orphanet journal of rare diseases (28.05.2015)
Published in Orphanet journal of rare diseases (28.05.2015)
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Journal Article
P05.1 Efficacy and tolerability of miglustat in patients with Niemann – Pick C disease
Kolnikova, M., Sýkora, P., Behúlová, D.
Published in European journal of paediatric neurology (01.05.2011)
Published in European journal of paediatric neurology (01.05.2011)
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