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
11.
Ogorek B, Hamieh L, Hulshof H, Lasseter K, Klonowska K, Kuijf H, et al.
Genet Med
. 2020 May;
22(9):1489-1497.
PMID: 32461669
Purpose: To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods: Infants were enrolled at...
12.
Jozwiak S, Slowinska M, Borkowska J, Sadowski K, Lojszczyk B, Domanska-Pakiela D, et al.
Pediatr Neurol
. 2019 Sep;
101:18-25.
PMID: 31481332
Backgroud: Drug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex. Clinical epileptic seizures are often preceded by electroencephalographic changes, which provide an...
13.
Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, et al.
J Clin Med
. 2019 Jun;
8(6).
PMID: 31163675
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study...
14.
Slowinska M, Jozwiak S, Peron A, Borkowska J, Chmielewski D, Sadowski K, et al.
Orphanet J Rare Dis
. 2018 Jan;
13(1):25.
PMID: 29378663
Background: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also...
15.
Jozwiak S, Sadowski K, Borkowska J, Domanska-Pakiela D, Chmielewski D, Jurkiewicz E, et al.
Pediatr Neurol
. 2017 Dec;
78:20-26.
PMID: 29249553
Background: The purpose of this study was to evaluate the epidemiology and clinical significance of hepatic angiomyolipomas in patients with tuberous sclerosis complex. Methods: We performed a retrospective analysis of...
16.
Malik A, Liszewska E, Skalecka A, Urbanska M, Iyer A, Swiech L, et al.
Acta Neuropathol Commun
. 2015 Jul;
3:48.
PMID: 26220190
Introduction: Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). Common TSC features include brain...
17.
Jurkiewicz E, Kotulska K, Nowak K, Malczyk K, Borkowska J, Bilska M
Childs Nerv Syst
. 2015 May;
31(9):1601-6.
PMID: 25966874
Purpose: The aim of the study is to present MRI examinations of the brain and spinal cord, performed in girls with acute severe neurological presentation of paraneoplastic syndrome associated with...
18.
Kotulska K, Borkowska J, Mandera M, Roszkowski M, Jurkiewicz E, Grajkowska W, et al.
Childs Nerv Syst
. 2014 Sep;
30(12):2037-42.
PMID: 25227171
Purpose: Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the...
19.
Kotulska K, Jurkiewicz E, Domanska-Pakiela D, Grajkowska W, Mandera M, Borkowska J, et al.
Eur J Paediatr Neurol
. 2014 Jul;
18(6):714-21.
PMID: 25030328
Background: Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3-5 months, after a period of latent epileptogenesis, but some develop...
20.
Kotulska K, Borkowska J, Roszkowski M, Mandera M, Daszkiewicz P, Drabik K, et al.
Pediatr Neurol
. 2014 Feb;
50(4):307-12.
PMID: 24507694
Background: Subependymal giant cell astrocytoma is a brain tumor associated with tuberous sclerosis complex. There are two treatment options for subependymal giant cell astrocytomas: surgery or mammalian target of rapamycin...