Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Sergiusz, Jóźwiak"'
Autor:
Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 832-849 (2024)
Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevel
Externí odkaz:
https://doaj.org/article/e1b18ace19a548f987304aa2382d5955
Autor:
Piotr Skrzypczyk, Kamil Ludwiniak, Anna Maria Wabik, Sergiusz Jóźwiak, Michał Brzewski, Jadwiga Małdyk, Małgorzata Pańczyk-Tomaszewska
Publikováno v:
Pediatria Polska, Vol 98, Iss 4, Pp 343-348 (2023)
We present a case of a 17-year-old girl with tuberous sclerosis complex (TSC) with suspicion of renal cell carcinoma in the left kidney. Pathomorphological examination revealed domination of fusiform cells, and foci of adipocytes with a tendency towa
Externí odkaz:
https://doaj.org/article/4a3d77673c2841e091319a3c6d7d334b
Autor:
Anna B. Marcinkowska, Sergiusz Jóźwiak, Agnieszka Sabisz, Agnieszka Tarasewicz, Beata Rutkowska, Alicja Dębska-Ślizień, Edyta Szurowska
Publikováno v:
Biomedicines, Vol 12, Iss 9, p 2061 (2024)
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high incidence of epilepsy and damaging effects on cognitive development. To understand the mechanisms leading to abnormal cognitive development, diffusion tensor imagi
Externí odkaz:
https://doaj.org/article/10c5d3001d634a48a4cfffa48c50f2a4
Publikováno v:
Neurology and Therapy, Vol 12, Iss 3, Pp 931-946 (2023)
Abstract Introduction Mechanistic target of rapamycin (mTOR) inhibitors sirolimus and everolimus are an effective therapy for subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and lymphangioleiomyomatosis associated w
Externí odkaz:
https://doaj.org/article/4220d88312e54549848bf873183c2dc1
Autor:
Jacqueline A. French, Martina Bebin, Marc A. Dichter, Jerome Engel Jr., Adam L. Hartman, Sergiusz Jóźwiak, Pavel Klein, James McNamara Sr., Roy Twyman, Paul Vespa
Publikováno v:
Epilepsia Open, Vol 6, Iss 3, Pp 483-492 (2021)
Abstract This is a summary report of clinical and regulatory issues discussed at the 2018 NINDS workshop, entitled “Accelerating Therapies for Antiepileptogenesis and Disease Modification.” The intent of the workshop was to optimize and accelerat
Externí odkaz:
https://doaj.org/article/531730396fe34253a66a9b0c974ba20d
Autor:
Stéphane Auvin, John J. Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F. L. Hofbauer, Anna C. Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J. Christopher Kingswood, Romina Moavero, Roser Torra, Vicente Villanueva
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various or
Externí odkaz:
https://doaj.org/article/5860f640003143889943eadb4c9b82dc
Autor:
Jessie De Ridder, Mario Lavanga, Birgit Verhelle, Jan Vervisch, Katrien Lemmens, Katarzyna Kotulska, Romina Moavero, Paolo Curatolo, Bernhard Weschke, Kate Riney, Martha Feucht, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Konrad Wojdan, Dorota Domanska-Pakieła, Magdalena Kaczorowska-Frontczak, Christoph Hertzberg, Cyrille H. Ferrier, Sharon Samueli, Barbora Benova, Eleonora Aronica, David J. Kwiatkowski, Floor E. Jansen, Sergiusz Jóźwiak, Sabine Van Huffel, Lieven Lagae
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with a high risk of early-onset epilepsy and a high prevalence of neurodevelopmental comorbidities, including intellectual disability and autism spectrum disorder (ASD). Therefore, TS
Externí odkaz:
https://doaj.org/article/5e5b31c5c880467a8726961a4a17973e
Autor:
Bozena Kuzniewska, Krzysztof Sadowski, Katarzyna Urbanska, Malgorzata Urbanska, Katarzyna Kotulska, Ewa Liszewska, Wieslawa Grajkowska, Sergiusz Jóźwiak, Magdalena Dziembowska
Publikováno v:
Folia Neuropathologica, Vol 56, Iss 3, Pp 167-174 (2018)
Tuberous sclerosis complex (TSC) represents a genetic condition, in which the clinical manifestations are caused by the disinhibition of the mammalian target of rapamycin (mTOR) pathway due to mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes.
Externí odkaz:
https://doaj.org/article/5e35a10b4e8546f2b714f6d6c6ce9fbc
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
Publikováno v:
Seizure. 93:1-7
To determine and quantify the effect of blue lenses (Z1) on photosensitivity (PS) suppression in patients aged 5-18 years with and without epilepsy.The retrospective cohort study was carried out in 100 pediatric patients aged 5-18 years with grade 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca41e949c82545a0c1976f3852fdc70e
https://doi.org/10.1016/j.seizure.2021.09.022
https://doi.org/10.1016/j.seizure.2021.09.022