Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial K Kotulska, DJ Kwiatkowski, P Curatolo, B Weschke, K Riney, F Jansen, ... Annals of neurology 89 (2), 304-314, 2021 | 179 | 2021 |
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? M Słowińska, S Jóźwiak, A Peron, J Borkowska, D Chmielewski, ... Orphanet Journal of Rare Diseases 13, 1-10, 2018 | 84 | 2018 |
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study B Ogórek, L Hamieh, HM Hulshof, K Lasseter, K Klonowska, H Kuijf, ... Genetics in Medicine 22 (9), 1489-1497, 2020 | 64 | 2020 |
Preventive antiepileptic treatment in tuberous sclerosis complex: a long-term, prospective trial S Jozwiak, M Słowińska, J Borkowska, K Sadowski, B Łojszczyk, ... Pediatric Neurology 101, 18-25, 2019 | 63 | 2019 |
Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: results from the EPISTOP study R Moavero, A Benvenuto, L Emberti Gialloreti, M Siracusano, K Kotulska, ... Journal of Clinical Medicine 8 (6), 788, 2019 | 60 | 2019 |
Management of side effects of mTOR inhibitors in tuberous sclerosis patients K Sadowski, K Kotulska, S Jóźwiak Pharmacological Reports 68, 536-542, 2016 | 58 | 2016 |
Role of mTOR inhibitors in epilepsy treatment K Sadowski, K Kotulska-Jóźwiak, S Jóźwiak Pharmacological Reports 67 (3), 636-646, 2015 | 57 | 2015 |
Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review K Sadowski, K Kotulska, RA Schwartz, S Jóźwiak Journal of the European Academy of Dermatology and Venereology 30 (4), 586-594, 2016 | 48 | 2016 |
Topical use of mammalian target of rapamycin (mTOR) inhibitors in tuberous sclerosis complex—a comprehensive review of the literature S Jóźwiak, K Sadowski, K Kotulska, RA Schwartz Pediatric neurology 61, 21-27, 2016 | 38 | 2016 |
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? R Moavero, K Kotulska, L Lagae, A Benvenuto, L Emberti Gialloreti, ... Annals of clinical and translational neurology 7 (8), 1371-1381, 2020 | 32 | 2020 |
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes J De Ridder, B Verhelle, J Vervisch, K Lemmens, K Kotulska, R Moavero, ... Epilepsia 62 (5), 1208-1219, 2021 | 27 | 2021 |
Fetal brain magnetic resonance imaging findings predict neurodevelopment in children with tuberous sclerosis complex HM Hulshof, EMH Slot, M Lequin, D Breuillard, N Boddaert, S Jozwiak, ... The Journal of Pediatrics 233, 156-162. e2, 2021 | 22 | 2021 |
Liver angiomyolipomas in tuberous sclerosis complex—their incidence and course S Jóźwiak, K Sadowski, J Borkowska, D Domańska-Pakieła, ... Pediatric Neurology 78, 20-26, 2018 | 21 | 2018 |
GSK3β activity alleviates epileptogenesis and limits GluA1 phosphorylation M Urbanska, P Kazmierska-Grebowska, T Kowalczyk, B Caban, K Nader, ... EBioMedicine 39, 377-387, 2019 | 20 | 2019 |
Basal ganglia echogenicity in tauopathies K Sadowski, M Serafin-Król, K Szlachta, A Friedman Journal of Neural Transmission 122, 863-865, 2015 | 19 | 2015 |
Brain tissue echogenicity—implications for substantia nigra studies in parkinsonian patients K Sadowski, K Szlachta, M Serafin-Król, J Gałązka-Friedman, A Friedman Journal of Neural Transmission 119, 363-367, 2012 | 16 | 2012 |
Brain tissue echogenicity—implications for substantia nigra studies in parkinsonian patients K Sadowski, K Szlachta, M Serafin-Król, J Gałązka-Friedman, A Friedman Journal of Neural Transmission 119, 363-367, 2012 | 16 | 2012 |
Antiepileptic effect and safety profile of rapamycin in pediatric patients with tuberous sclerosis complex K Sadowski, K Sijko, D Domańska-Pakieła, J Borkowska, D Chmielewski, ... Frontiers in Neurology 13, 704978, 2022 | 6 | 2022 |
miRNAs and isomiRs: Serum-based biomarkers for the development of intellectual disability and autism Spectrum disorder in tuberous sclerosis Complex M Scheper, A Romagnolo, ZM Besharat, AM Iyer, R Moavero, C Hertzberg, ... Biomedicines 10 (8), 1838, 2022 | 5 | 2022 |
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies T Baumgartner, M Carreño, R Rocamora, F Bisulli, A Boni, M Brázdil, ... Epilepsia open 6 (1), 160-170, 2021 | 4 | 2021 |