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Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13.
J Neurol. 2022.
PMID: 34387740
Free PMC article.
Clinical Trial.
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J.
Kolnikova M, et al. Among authors: foltan t.
J Mol Neurosci. 2019 Apr;67(4):559-563. doi: 10.1007/s12031-019-1259-7. Epub 2019 Jan 11.
J Mol Neurosci. 2019.
PMID: 30632081
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DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.
Kolnikova M, Skopkova M, Ilencikova D, Foltan T, Payerova J, Danis D, Klimes I, Stanik J, Gasperikova D.
Kolnikova M, et al. Among authors: foltan t.
Seizure. 2018 Mar;56:31-33. doi: 10.1016/j.seizure.2018.01.020. Epub 2018 Feb 3.
Seizure. 2018.
PMID: 29427836
Free article.
No abstract available.
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A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova D, Kolnikova M, Lacinova L, Jurkovicova-Tarabova B, Foltan T, Demko V, Kadasi L, Ficek A, Soltysova A.
Kluckova D, et al. Among authors: foltan t.
Sci Rep. 2020 Jun 24;10(1):10288. doi: 10.1038/s41598-020-67215-y.
Sci Rep. 2020.
PMID: 32581296
Free PMC article.
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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A.
Kluckova D, et al. Among authors: foltan t.
Epilepsy Res. 2021 Oct;176:106699. doi: 10.1016/j.eplepsyres.2021.106699. Epub 2021 Jun 23.
Epilepsy Res. 2021.
PMID: 34229227
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Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K.
Bremova-Ertl T, et al. Among authors: foltan t.
N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151.
N Engl J Med. 2024.
PMID: 38294974
Clinical Trial.
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