Julita Borkowska
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Explore the profile of Julita Borkowska including associated specialties, affiliations and a list of published articles.
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24
Citations
516
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Recent Articles
1.
Stevering C, Lequin M, Szczepaniak K, Sadowski K, Ishrat S, De Luca A, et al.
Epilepsia
. 2024 Dec;
66(2):356-368.
PMID: 39641935
Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance...
2.
Huschner F, Glowacka-Walas J, Mills J, Klonowska K, Lasseter K, Asara J, et al.
Nat Commun
. 2023 Nov;
14(1):7664.
PMID: 37996417
We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants...
3.
Scheper M, Romagnolo A, Besharat Z, Iyer A, Moavero R, Hertzberg C, et al.
Biomedicines
. 2022 Aug;
10(8).
PMID: 36009385
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including autism spectrum disorder...
4.
Forys-Basiejko M, Kotulska K, Maryniak A, Siluszyk A, Szkop M, Borkowska J, et al.
J Clin Med
. 2022 Aug;
11(15).
PMID: 35956179
This paper aimed to assess language development in infants and toddlers with tuberous sclerosis complex (TSC) and epilepsy, which increase the risk of autism spectrum disorder. We assessed language development...
5.
Pawlik B, Smyczynska U, Grabia S, Fendler W, Drozdz I, Babol-Pokora K, et al.
J Clin Med
. 2022 Jun;
11(12).
PMID: 35743464
The aim of this study was to determine the serum profiles of miRNAs in patients with tuberous sclerosis (TSC) upon sirolimus treatment and compare them with those previously treated with...
6.
Sadowski K, Sijko K, Domanska-Pakiela D, Borkowska J, Chmielewski D, Ulatowska A, et al.
Front Neurol
. 2022 May;
13:704978.
PMID: 35572924
Background: Epilepsy develops in 70-90% of children with Tuberous Sclerosis Complex (TSC) and is often resistant to medication. Treatment with mTOR pathway inhibitors is an important therapeutic option in drug-resistant...
7.
Babol-Pokora K, Bielska M, Bobeff K, Jatczak-Pawlik I, Borkowska J, Kotulska K, et al.
Eur J Med Genet
. 2021 Aug;
64(10):104309.
PMID: 34403804
The aim of this study was to evaluate a cost-effective diagnostic strategy for identification of casual variants for tuberous sclerosis complex (TSC) in the Polish population and to correlate the...
8.
Kotulska K, Kwiatkowski D, Curatolo P, Weschke B, Riney K, Jansen F, et al.
Ann Neurol
. 2020 Nov;
89(2):304-314.
PMID: 33180985
Objective: Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the...
9.
Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, et al.
Ann Clin Transl Neurol
. 2020 Jul;
7(8):1371-1381.
PMID: 32705817
Objective: To evaluate the relationship between age at seizure onset and neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on neurodevelopmental outcome of...
10.
Bongaarts A, de Jong J, Broekaart D, van Scheppingen J, Anink J, Mijnsbergen C, et al.
J Neuropathol Exp Neurol
. 2020 May;
79(7):777-790.
PMID: 32472129
Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes...