Tomas Foltan

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 9 publications

Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trial.

Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trial.

Journal: The Lancet. Neurology

Published: March 15, 2026

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Journal: Neurology

Published: June 13, 2025

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Journal: Journal of neurology

Published: July 19, 2024

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Journal: The New England journal of medicine

Published: January 31, 2024

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.

Journal: Journal of neurology

Published: May 06, 2021

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Journal: Epilepsy research

Published: January 05, 2021

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

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

Journal: Scientific reports

Published: January 27, 2020

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

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

Journal: Journal of molecular neuroscience : MN

Published: September 03, 2018

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

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

Journal: Seizure

Published: December 15, 2017

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Last Updated: 09/26/2026