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Page 1
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ. Huschner F, et al. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE; EPISTOP consortium. Hulshof HM, et al. Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31. Neurology. 2022. PMID: 35101906
Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.
Jóźwiak S, Sadowski K, Borkowska J, Domańska-Pakieła D, Chmielewski D, Jurkiewicz E, Jaworski M, Urbańska M, Ogrodnik M, Słowińska M, Kotulska K. Jóźwiak S, et al. Pediatr Neurol. 2018 Jan;78:20-26. doi: 10.1016/j.pediatrneurol.2017.09.012. Epub 2017 Sep 28. Pediatr Neurol. 2018. PMID: 29249553
Epilepsy in newborns with tuberous sclerosis complex.
Kotulska K, Jurkiewicz E, Domańska-Pakieła D, Grajkowska W, Mandera M, Borkowska J, Jóźwiak S. Kotulska K, et al. Eur J Paediatr Neurol. 2014 Nov;18(6):714-21. doi: 10.1016/j.ejpn.2014.06.009. Epub 2014 Jul 5. Eur J Paediatr Neurol. 2014. PMID: 25030328
Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.
Stevering C, Lequin M, Szczepaniak K, Sadowski K, Ishrat S, De Luca A, Leemans A, Otte W, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen A, Wojdan K, Sijko K, Glowacka-Walas J, Borkowska J, Domanska-Pakiela D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Petrák B, Maminak M, Aronica E, De Ridder J, Lagae L, Jozwiak S, Kotulska K, Braun K, Jansen F. Stevering C, et al. Epilepsia. 2024 Dec 6. doi: 10.1111/epi.18190. Online ahead of print. Epilepsia. 2024. PMID: 39641935
29 results