Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Julita Borkowska"'
Publikováno v:
Pediatria Polska, Vol 99, Iss 3, Pp 179-186 (2024)
Externí odkaz:
https://doaj.org/article/b3a0dc73e3054e48a8805c48c18e3c5f
Autor:
Franz Huschner, Jagoda Głowacka-Walas, James D. Mills, Katarzyna Klonowska, Kathryn Lasseter, John M. Asara, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Bořivoj Petrák, Jackelien van Scheppingen, Josef Zamecnik, Anand Iyer, Jasper J. Anink, Angelika Mühlebner, Caroline Mijnsbergen, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Magdalena Blazejczyk, Floor E. Jansen, Stef Janson, Malgorzata Urbanska, Aleksandra Tempes, Bart Janssen, Kamil Sijko, Konrad Wojdan, Sergiusz Jozwiak, Katarzyna Kotulska, Karola Lehmann, Eleonora Aronica, Jacek Jaworski, David J. Kwiatkowski
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract 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 with TSC were foll
Externí odkaz:
https://doaj.org/article/4ebd3a42e79a421f9ec149801b6df580
Autor:
Krzysztof Sadowski, Kamil Sijko, Dorota Domańska-Pakieła, Julita Borkowska, Dariusz Chmielewski, Agata Ulatowska, Sergiusz Józwiak, Katarzyna Kotulska
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundEpilepsy 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 epilepsy associated with TSC.
Externí odkaz:
https://doaj.org/article/ced8cf5ab888457aa190cafc2a5fcb37
Autor:
Romina Moavero, Katarzyna Kotulska, Lieven Lagae, Arianna Benvenuto, Leonardo Emberti Gialloreti, Bernhard Weschke, Kate Riney, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Konrad Wojdan, Julita Borkowska, Krzysztof Sadowski, Christoph Hertzberg, Monique M. Van Schooneveld, Sharon Samueli, Alice Maulisovà, Eleonora Aronica, David J. Kwiatkowski, Floor E. Jansen, Sergiusz Jozwiak, Paolo Curatolo, the EPISTOP Consortium
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1371-1381 (2020)
Abstract 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 early versus conventional treatment of epileptic
Externí odkaz:
https://doaj.org/article/9ee0ecd1135c49efbd34863b65289943
Autor:
Mirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, Anand M. Iyer, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Borivoj Petrak, Alice Maulisova, Rima Nabbout, Anna C. Jansen, Floor E. Jansen, Lieven Lagae, Malgorzata Urbanska, Elisabetta Ferretti, Aleksandra Tempes, Magdalena Blazejczyk, Jacek Jaworski, David J. Kwiatkowski, Sergiusz Jozwiak, Katarzyna Kotulska, Krzysztof Sadowski, Julita Borkowska, Paolo Curatolo, James D. Mills, Eleonora Aronica, EPISTOP Consortium Members
Publikováno v:
Biomedicines, Vol 10, Iss 8, p 1838 (2022)
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 spe
Externí odkaz:
https://doaj.org/article/f771935c50eb4ff39dc3c5c38aa4acd0
Autor:
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract 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 characterized by high rates of neurological and neur
Externí odkaz:
https://doaj.org/article/8616eb4e73db4a5485d92a3a798da1cb
Autor:
Małgorzata Foryś-Basiejko, Katarzyna Kotulska, Agnieszka Maryniak, Agata Siłuszyk, Monika Szkop, Julita Borkowska, Monika Sugalska, Jagoda Głowacka-Walas, Sergiusz Jóźwiak
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 15; Pages: 4564
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 in 61 patients with TSC at 8–36 months
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f693f4f4abc50261d5e938e51c21592
https://pubmed.ncbi.nlm.nih.gov/35956179
https://pubmed.ncbi.nlm.nih.gov/35956179
Autor:
Bartłomiej Pawlik, Urszula Smyczyńska, Szymon Grabia, Wojciech Fendler, Izabela Dróżdż, Katarzyna Bąbol-Pokora, Katarzyna Kotulska, Sergiusz Jóźwiak, Julita Borkowska, Wojciech Młynarski, Joanna Trelińska
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 12; Pages: 3395
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 everolimus in a similarly designed experiment. Serum microRNA p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a975595af986d937a7470a472319a60
Autor:
Anna Jansen, Hugo J. Kuijf, Hanna M. Hulshof, Malgorzata Urbanska, Eleonora Aronica, Julita Borkowska, Krzysztof Sadowski, Barbara Ogorek, Piotr Kozlowski, Kate Riney, Floor E. Jansen, Kathryn Lasseter, Lieven Lagae, Barbora Benova, Theresa Scholl, Lana Hamieh, Katarzyna Kotulska, Dorota Domańska-Pakieła, Paolo Curatolo, Stef Janson, Romina Moavero, Christoph Hertzberg, Pavel Krsek, Jacek Jaworski, Martha Feucht, Sergiusz Jozwiak, David J. Kwiatkowski, Katarzyna Klonowska, Bernhard Weschke, Rima Nabbout
Publikováno v:
Genetics in medicine, 22(9), 1489-1497. Lippincott Williams and Wilkins
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 age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43d8dec1222415aa9efbb3957a8b0d5
https://doi.org/10.1038/s41436-020-0823-4
https://doi.org/10.1038/s41436-020-0823-4
Autor:
Krzysztof Sadowski, Magdalena Kaczorowska-Frontczak, Sergiusz Jozwiak, Katarzyna Kotulska, Julita Borkowska, Kamil Sijko, Monika Słowińska, Barbara Łojszczyk, Jagoda Głowacka, Dariusz Chmielewski, Dorota Domańska-Pakieła
Publikováno v:
Pediatric Neurology. 101:18-25
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 opportunity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c9bcd674aed2808b5344aa6ae45fa08
https://doi.org/10.1016/j.pediatrneurol.2019.07.008
https://doi.org/10.1016/j.pediatrneurol.2019.07.008