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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. Among authors: domanska pakiela d. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
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.
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. Among authors: domanska pakiela d. 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.
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
Hulshof HM, Slot EMH, Lequin M, Breuillard D, Boddaert N, Jozwiak S, Kotulska K, Riney K, Feucht M, Samueli S, Scholl T, Krsek P, Benova B, Braun KPJ, Jansen FE, Nabbout R; EPISTOP consortium. Hulshof HM, et al. J Pediatr. 2021 Jun;233:156-162.e2. doi: 10.1016/j.jpeds.2021.02.060. Epub 2021 Feb 26. J Pediatr. 2021. PMID: 33640330 Free 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
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. Among authors: domanska pakiela d. Epilepsia. 2024 Dec 6. doi: 10.1111/epi.18190. Online ahead of print. Epilepsia. 2024. PMID: 39641935
[Phacomatoses: structural substare of epilepsy].
Jóźwiak S, Kasprzyk-Obara J, Domańska-Pakieła D. Jóźwiak S, et al. Neurol Neurochir Pol. 2000;34 Suppl 1:243-51. Neurol Neurochir Pol. 2000. PMID: 10768165 Polish.
28 results