Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Dorota Domańska-Pakieła"'
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:
Katarzyna Bierła, Renata Bokiniec, Joanna Bothur-Nowacka, Magdalena Czarnecka-Operacz, Justyna Czech-Kowalska, Maria Beata Czeszyńska, Anna Dobrzańska, Dorota Domańska-Pakieła, Janusz Gadzinowski, Elżbieta Gajewska, Anna Gotz-Więckowska, Ewa Helwich, Dominika Jedlińska-Pijanowska, Marek Jóźwiak, Sergiusz Jóźwiak, Elżbieta Jurkiewicz, Monika Kamianowska, Wanda Kawalec, Marcin Kęsiak, Maria Katarzyna Borszewska-Kornacka, Katarzyna Kotulska, Ryszard Lauterbach, Jan Mazela, Elżbieta Moszczyńska, Jacek J. Pietrzyk, Agata Pleskaczyńska, Andrzej Pucher, Beata Pusz, Bogumiła Stoińska, Agnieszka Szafrańska, Jerzy Szczapa, Tomasz Szczapa, Marek Szczepański, Marta Szymankiewicz-Bręborowicz, Robert Śmigiel, Janusz Świetliński, Anna Tarko, Irena Wojsyk-Banaszak, Katarzyna Wróblewska-Seniuk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9528e629455b12d10dbf3ea1797cc66
https://doi.org/10.53271/2022.065
https://doi.org/10.53271/2022.065
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
Autor:
Konrad Wojdan, Jessie De Ridder, Pavel Krsek, Cyrille H. Ferrier, Martha Feucht, Eleonora Aronica, Alena Jahodova, Floor E. Jansen, Mario Lavanga, Anna Jansen, Christoph Hertzberg, Bernhard Weschke, Sharon Samueli, Katarzyna Kotulska, Dorota Domańska-Pakieła, Alexander Caicedo, Romina Moavero, David J. Kwiatkowski, Magdalena Kaczorowska-Frontczak, Rima Nabbout, Sabine Van Huffel, Paolo Curatolo, Lieven Lagae, Sergiusz Jóźwiak, Kate Riney
Publikováno v:
Biomedical Signal Processing and Control
Biomedical Signal Processing and Control, Elsevier, 2021, 68, pp.102658. ⟨10.1016/j.bspc.2021.102658⟩
BIOMEDICAL SIGNAL PROCESSING AND CONTROL, 68:102658. Elsevier BV
Biomedical Signal Processing and Control, Elsevier, 2021, 68, pp.102658. ⟨10.1016/j.bspc.2021.102658⟩
BIOMEDICAL SIGNAL PROCESSING AND CONTROL, 68:102658. Elsevier BV
Objective The aim of this study is the investigation of early-life EEG background abnormalities or “dysmature” traits in infants with tuberous sclerosis complex (TSC) and their capacity to predict autism spectrum disorder or neurodevelopmental ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3065fef89efc84768bbabc3426a3a066
https://hal.archives-ouvertes.fr/hal-03620953
https://hal.archives-ouvertes.fr/hal-03620953
Autor:
Emma M.H. Slot, David J. Kwiatkowski, Sergiusz Jozwiak, N. Maćkowiak, Konrad Wojdan, Jasper J. Anink, Bernhard Weschke, Kamil Sijko, Eleonora Aronica, Dariusz Chmielewski, Maarten H. Lequin, Sharon Samueli, A. Sciuto, A. Haręza, Bart Janssen, Kate Riney, Pavel Krsek, J. van Scheppingen, Nathalie Boddaert, Barbora Benova, Delphine Breuillard, Theresa Scholl, M. Dabrowska, Anna Jansen, Arianna Benvenuto, M. Blazejczyk, A. Muelebner, J. De Ridder, Julita Borkowska, M. Urbańska, Monika Słowińska, Magdalena Kaczorowska-Frontczak, Lieven Lagae, Krzysztof Sadowski, L. Hamieh, James D. Mills, Anand Iyer, A. Tempes, K. Lehmann, Dorota Domańska-Pakieła, Kees P.J. Braun, Rima Nabbout, Floor E. Jansen, K. Giannikou, J. Głowacka, Jan Vervisch, J. Jaworski, A. Leusman, Martha Feucht, Hanna M. Hulshof, Katarzyna Kotulska, A. Bongaerts, Birgit Verhelle, C. Scheldeman, Paolo Curatolo
Publikováno v:
Journal of pediatrics, 233, 156-162.e2. Mosby Inc.
Objective To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children with tuberous sclerosis complex (TSC) to improve prenatal counseling. Study design This retr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1f6ff0f4fe6580cb9688d3104edbd3
https://pure.amc.nl/en/publications/fetal-brain-magnetic-resonance-imaging-findings-predict-neurodevelopment-in-children-with-tuberous-sclerosis-complex(ad741632-368b-4d35-a8c5-0a694604e2f7).html
https://pure.amc.nl/en/publications/fetal-brain-magnetic-resonance-imaging-findings-predict-neurodevelopment-in-children-with-tuberous-sclerosis-complex(ad741632-368b-4d35-a8c5-0a694604e2f7).html
Autor:
Krzysztof Sadowski, Kamil Sijko, Dorota Domańska-Pakieła, Julita Borkowska, Dariusz Chmielewski, Agata Ulatowska, Sergiusz Józwiak, Katarzyna Kotulska
Publikováno v:
Frontiers in neurology. 13
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe5e3927f08459ea8a14aba0313de52
https://pubmed.ncbi.nlm.nih.gov/35572924
https://pubmed.ncbi.nlm.nih.gov/35572924
Autor:
Floor E. Jansen, Lieven Lagae, Jan Vervisch, Cyrille H. Ferrier, Rima Nabbout, Jessie De Ridder, Anna Jansen, Birgit Verhelle, Romina Moavero, Christoph Hertzberg, Konrad Wojdan, Paolo Curatolo, Kate Riney, Pavel Krsek, Magdalena Kaczorowska-Frontczak, David J. Kwiatkowski, Bernhard Weschke, Eleonora Aronica, Martha Feucht, Dorota Domańska-Pakieła, Sergiusz Jóźwiak, Katrien Lemmens, Barbora Benova, Sharon Samueli, Katarzyna Kotulska
Publikováno v:
Epilepsia, 62(5), 1208-1219. Wiley-Blackwell
OBJECTIVE: To study the association between timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED-EEG) and epilepsy and neurodevelopment at 24 months in infants with tuberous sclerosis complex (TSC). ME
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9868202b6cd7727f2951f9c48874c694
https://pubmed.ncbi.nlm.nih.gov/33778971
https://pubmed.ncbi.nlm.nih.gov/33778971
Autor:
Alessandro Prigione, Małgorzata Rydzanicz, Dorota Domańska-Pakieła, Urszula Demkow, Piotr Stawiński, Malgorzata Wiweger, Elżbieta Jurkiewicz, Erik C. Cook, Krystyna Szymańska, Trevor P. Creamer, Grażyna Kostrzewa, Małgorzata Brzozowska, Pawel Lisowski, Bożena Kuźniewska, Magdalena Dziembowska, Aleksandra Szybinska, Sebastian Diecke, Malgorzata Wachowska, Joanna Kosińska, Krzysztof Szczałuba, Rafał Płoski, Victor Murcia Pienkowski, Agnieszka Koppolu, Agnieszka Gromadka, Piotr Zielenkiewicz, Jacek Kuźnicki
PPP3CA encodes calmodulin-binding catalytic subunit of calcineurin, a ubiquitously expressed calcium/calmodulin-regulated protein phosphatase. Recently de novo PPP3CA variants were reported as a cause of disease in 12 subjects presenting with epilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc62686339d91e19b06aa48743620c45
https://europepmc.org/articles/PMC6303256/
https://europepmc.org/articles/PMC6303256/