Analiza wybranych czynników kształtujących poziom organizacji Euro 2012 na przykładzie Gdańska

Autor: Dariusz Kuczyński, Barbara Marciszewska, Tomasz Taraszkiewicz, Piotr Wojdakowski

Publikováno v: Ekonomiczne Problemy Turystyki, Vol 30 (2015)

Sports tourism, on account of an interest growing in the society in sport, including football, is becoming a popular form of spending the leisure time more and more. Sports successes, international integration but also willingness of getting to know

Externí odkaz: https://doaj.org/article/c2f4023acd124c63835ebbac2da4bf0a

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

Autor: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2
https://ruj.uj.edu.pl/xmlui/handle/item/112814

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Autor: Elżbieta Jurkiewicz, Joanna Szymkiewicz-Dangel, Katarzyna Tomaszek, Julita Borkowska, Katarzyna Kotulska, Maria Kornacka, Dariusz Chmielewski, Dorota Domańska-Pakieła, Sergiusz Jóźwiak, Dorota Dunin-Wąsowicz, Wanda Kawalec, Małgorzata Syczewska, Tomasz Kmieć, Dariusz Kuczyński, Barbara Łojszczyk, Maria Respondek-Liberska

Publikováno v: European Journal of Paediatric Neurology. 15:424-431

BackgroundEpilepsy appears in 70–80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-resistant epilepsy and mental retardation in more than 80% of patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f52bb4cd61c4fd115293b08a4a802e
https://doi.org/10.1016/j.ejpn.2011.03.010

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

Autor: Dariusz Kuczyński, Tomasz Kmieć, Dorota Dunin-Wąsowicz, Katarzyna Kotulska, Julita Borkowska, Dariusz Chmielewski, Barbara Łojszczyk, Sergiusz Jóźwiak, Elżbieta Jurkiewicz

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 17(5)

Background Tuberous sclerosis complex (TSC) is a genetic disorder characterized by increased mammalian target of rapamycin (mTOR) activation and growth of benign tumors in several organs throughout the body. In young children with TSC, drug-resistant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf452ac1030baff117ece6f28c49fe4d
https://pubmed.ncbi.nlm.nih.gov/23567018

Acute fright induces onset of symptoms in vanishing white matter disease-Case report

Autor: Magdalena Kaczorowska, Gert C. Scheper, Dariusz Kuczyński, Elżbieta Jurkiewicz, Sergiusz Jozwiak, M.S. van der Knaap

Publikováno v: European Journal of Paediatric Neurology, 10(4), 192-193. W.B. Saunders Ltd
Kaczorowska, M, Kuczynski, D, Jurkiewicz, E, Scheper, G C, van der Knaap, M S & Jozwiak, S 2006, ' Acute fright induces onset of symptoms in vanishing white matter disease-Case report ', European Journal of Paediatric Neurology, vol. 10, no. 4, pp. 192-193 . https://doi.org/10.1016/j.ejpn.2006.05.008

Vanishing white matter disease is a newly recognised leukoencephalopathy of identified genetic background, characterised by cystic degeneration and progressive vanishing of white matter. The characteristic clinical symptoms are spasticity and ataxia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b9bd18313dbb1f9d4770042b5f053a
https://research.vumc.nl/en/publications/95f12a1b-67e5-4afa-a411-ff626a58238d