Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Marta Skowronska"'
Autor:
Yiren Qin, Carlos Godoy-Parejo, Marta Skowronska, Angela Verma, Marion Dejosez, Thomas P. Zwaka
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103483- (2024)
Recent studies reported that the mutation in the THAP11 gene (THAP11F80L) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism. However,
Externí odkaz:
https://doaj.org/article/66668b8cf6d04bc4b376ecf6ebcca826
Autor:
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primari
Externí odkaz:
https://doaj.org/article/397740004a1b45fa965e4a7adab07532
Autor:
Agnieszka Antos, Anna Członkowska, Jan Bembenek, Marta Skowronska, Iwona Kurkowska-Jastrzębska, Tomasz Litwin
Publikováno v:
Diagnostics, Vol 13, Iss 9, p 1554 (2023)
Wilson’s disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agen
Externí odkaz:
https://doaj.org/article/0a8e43e16eb142f4933feb4077117244
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous inherited neurodegenerative disorders characterized by progressive ataxia and cerebellar degeneration. Here, we used a mouse model to test a possible connection between SCA and R
Externí odkaz:
https://doaj.org/article/a01a801280d8456cb3f27ff0d994f79a
Autor:
Andrzej Małecki, Janina Skipor-Lahuta, Michal Toborek, N. Joan Abbott, David A. Antonetti, Enming Joe Su, Daniel A. Lawrence, Müge Atış, Uğur Akcan, Canan Uğur Yılmaz, Nurcan Orhan, Poyraz Düzgün, Umut Deniz Ceylan, Nadir Arıcan, Serçin Karahüseyinoğlu, Gizem Nur Şahin, Bülent Ahıshalı, Mehmet Kaya, Sidar Aydin, Armelle Klopstein, Britta Engelhardt, Julia Baumann, Chih-Chieh Tsao, Sheng-Fu Huang, Omolara Ogunshola, Elizaveta B. Boytsova, Andrey V. Morgun, Elena D. Khilazheva, Elena A. Pozhilenkova, Yana V. Gorina, Galina P. Martynova, Alla B. Salmina, David Bueno, Jordi Garcia-Fernàndez, Victor Castro, Marta Skowronska, Matheus Uba Chupel, Luciele Guerra Minuzzi, Edith Filaire, Ana Maria Teixeira, Mariangela Corsi, Romain Versele, Andrea Fuso, Emmanuel Sevin, Cherubino Di Lorenzo, Rita Businaro, Laurence Fenart, Fabien Gosselet, Pietra Candela, Mária A. Deli, Conor Delaney, Eoin O’Keefe, Michael Farrell, Sarah Doyle, Matthew Campbell, Lester R. Drewes, A. Appelt-Menzel, A. Cubukova, M. Metzger, R. Fischer, David M. F. Francisco, Rémy Bruggmann, Alexa Fries, Kinga G. Blecharz, Josephin Wagner, Lars Winkler, Ulf Schneider, Peter Vajkoczy, Mikio Furuse, Lydia Gabbert, Christina Dilling, Dmitri Sisario, Vladimir Soukhoroukov, Malgorzata Burek, S. Guérit, E. Fidan, K. Devraj, C. J. Czupalla, J. Macas, S. Thom, K. H. Plate, H. Gerhardt, S. Liebner, András Harazin, Alexandra Bocsik, Judit Váradi, Ferenc Fenyvesi, Vilmos Tubak, Miklós Vecsernyés, Hans Christian Helms, Helle Sønderby Waagepetersen, Carsten Uhd Nielsen, Birger Brodin, Zsófia Hoyk, Melinda E. Tóth, Nikolett Lénárt, Brigitta Dukay, Ágnes Kittel, Judit Vígh, Szilvia Veszelka, Fruzsina Walter, Ágnes Zvara, László Puskás, Miklós Sántha, Sabrina Engelhardt, Omolara O. Ogunshola, Anna Huber, Alexander Reitner, Samar Osmen, Kathrin Hahn, Neli Bounzina, Anna Gerhartl, Anna Schönegger, Hannes Steinkellner, Franco Laccone, Winfried Neuhaus, Natalie Hudson, Lucia Celkova, Anne Iltzsche, Svetlana Drndarski, David J Begley, Mette Mathiesen Janiurek, Krzysztof Kucharz, Christina Christoffersen, Lars Bo Nielsen, Martin Lauritzen, Rebecca H Johnson, Dan T Kho, Simon J O’Carroll, Catherine E Angel, E. Scott Graham, Jennifer Pereira, Christina Simoglou Karali, Vinton Cheng, Niloufar Zarghami, Manuel Sarmiento Soto, Yvonne Couch, Daniel C. Anthony, Nicola R. Sibson, John Kealy, Richard F. Keep, Lisa J. Routhe, Jianming Xiang, Hong Ye, Ya Hua, Torben Moos, Guohua Xi, M. Kristensen, A. Bach, K. Strømgaard, Nikolay Kutuzov, Melissa A. Lopes-Pinheiro, Jamie Lim, Alwin Kamermans, Jack van Horssen, Wendy W.J. Unger, Ruud Fontijn, Helga E. de Vries, Petra Majerova, Ralph M. Garruto, Luca Marchetti, David Francisco, Isabelle Gruber, Ruth Lyck, Mária Mészáros, Gergő Porkoláb, Lóránd Kiss, Ana-Maria Pilbat, Zsolt Török, Zsolt Bozsó, Lívia Fülöp, Alena Michalicova, Jaroslav Galba, Sandra Mihaljevic, Michal Novak, Andrej Kovac, Yoichi Morofuji, Takashi Fujimoto, Daisuke Watanabe, Shinsuke Nakagawa, Kenta Ujifuku, Nobutaka Horie, Tsuyoshi Izumo, Takeo Anda, Takayuki Matsuo, Fang Niu, Shilpa Buch, Ádám Nyúl-Tóth, Mihály Kozma, Péter Nagyőszi, Krisztina Nagy, Csilla Fazakas, János Haskó, Kinga Molnár, Attila E. Farkas, Péter Galajda, Imola Wilhelm, István A. Krizbai, Eoin Kelly, Eugene Wallace, Chris Greene, Stephanie Hughes, Niamh Doyle, Marian M. Humphries, Gerald A. Grant, Alon Friedman, Ronel Veksler, Michael G. Molloy, James F. Meaney, Niall Pender, Colin P. Doherty, Minseon Park, Arkadiusz Liskiewicz, Marta Przybyla, Daniela Kasprowska-Liśkiewicz, Marta Nowacka-Chmielewska, Andrzej Malecki, Ana Pombero, Raquel Garcia-Lopez, Marta Martinez-Morga, Salvador Martinez, Ofer Prager, Lyna Solomon-Kamintsky, Karl Schoknecht, Guy Bar-Klein, Dan Milikovsky, Udi Vazana, Dror Rosenbach, Richard Kovács, Zsolt Radak, Sabela Rodríguez-Lorenzo, Remy Bruggmann, Gijs Kooij, Helga E de Vries, Semyachkina-Glushkovskaya Oxana, Bragin Denis, Vodovozova Elena, Alekseeva Anna, Salmina Alla, Salmin Vladimir, Morgun Andrey, Malinovskaya Nataliya, Khilazheva Elena, Boytsova Elizaveta, Shirokov Alexander, Navolokin Nikita, Bucharskaya Alla, Yang Yirong, Abdurashitov Arkady, Gekalyuk Artem, Ulanova Mariya, Shushunova Anastasia, Bodrova Madina, Sagatova Artem, Khorovodov Alexander, Shareef Ali Esmat, Pavlov Valery, Tuchin Artem, Kurths Jürgen, Marcelle Silva de Abreu, Ana C. Calpena, Marta Espina, Maria Luisa García, Ignacio A. Romero, David Male, Steffen Storck, Anika Hartz, Jens Pahnke, Claus U. Surma, M. Surma, Z. Giżejewski, H. Zieliński, Aleksandra Szczepkowska, Marta Kowalewska, Agata Krawczynska, Andrzej P. Herman, Janina Skipor, Nicole Kachappilly, Mike Veenstra, Rosiris Leon Rivera, Dionna W. Williams, Susan Morgello, Joan W. Berman, Ursula Wyneken, Luis Federico Batiz, Arzu Temizyürek, Rouhollah Khodadust, Mutlu Küçük, Candan Gürses, Serkan Emik, Magdalena Zielińska, Marta Obara-Michlewska, Krzysztof Milewski, Edyta Skonieczna, Inez Fręśko, Edward A. Neuwelt, Ana Raquel Santa Maria, Ana Rita Bras, Dóra Lipka, Sándor Valkai, András Kincses, András Dér, Maria A. Deli
Publikováno v:
Fluids and Barriers of the CNS, Vol 14, Iss S2, Pp 1-23 (2017)
Externí odkaz:
https://doaj.org/article/eebaa084b06a4ed5bbbb7e8fae457691
Autor:
Michael L Schilsky, Anna Czlonkowska, Massimo Zuin, David Cassiman, Carlos Twardowschy, Aurelia Poujois, Francisco de Assis A Gondim, Gerald Denk, Rubens G Cury, Peter Ott, Joanna Moore, Aftab Ala, Renata D'Inca, Eduardo Couchonnal-Bedoya, Koenraad D'Hollander, Nicolas Dubois, C Omar F Kamlin, Karl Heinz Weiss, Uyen To, Amar Patel, Daksshi Hettiarachchi, Alessia Giorgini, Sara Monico, Tomasz Litwin, Agnieszka Piechal, Marta Skowronska, Alain Lachaux, Abdelouahed Belmalih, Alexandra Boogers, Isabelle Mohr, Andrea Langel, Christian Freitas, Egberto Reis Barbosa, Thomas D Sandahl, Lisbet Gerdes, Alexandre Obadia, Djamila Rahli, Jeremy Cosgrove
Publikováno v:
CHELATE trial investigators 2022, ' Trientine tetrahydrochloride versus penicillamine for maintenance therapy in Wilson disease (CHELATE) : a randomised, open-label, non-inferiority, phase 3 trial ', The Lancet Gastroenterology and Hepatology, vol. 7, no. 12, pp. 1092-1102 . https://doi.org/10.1016/S2468-1253(22)00270-9
Background: Wilson disease is an inherited disorder of copper transport. Whereas penicillamine is used therapeutically to re-establish copper balance, trientine is indicated for patients with penicillamine intolerance. We aimed to compare penicillami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc08a6d996987fd1d2dba0c63b14f359
https://pure.au.dk/portal/da/publications/trientine-tetrahydrochloride-versus-penicillamine-for-maintenance-therapy-in-wilson-disease-chelate(ba317b8b-40a9-4b06-9881-6e93f059c2ea).html
https://pure.au.dk/portal/da/publications/trientine-tetrahydrochloride-versus-penicillamine-for-maintenance-therapy-in-wilson-disease-chelate(ba317b8b-40a9-4b06-9881-6e93f059c2ea).html
This edited volume traverses the spectrum of experiences that take place after children leave the family home and parents find themselves in the'empty nest'stage of life. Rather than focusing on measuring the intensity of empty nest syndrome or askin
Publikováno v:
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 14, Iss 6 (2021)
Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous inherited neurodegenerative disorders characterized by progressive ataxia and cerebellar degeneration. Here, we used a mouse model to test a possible connection between SCA and R
Autor:
Tomasz Litwin, Agnieszka Antos, Jan Bembenek, Adam Przybyłkowski, Iwona Kurkowska-Jastrzębska, Marta Skowrońska, Anna Członkowska
Publikováno v:
Diagnostics, Vol 13, Iss 14, p 2424 (2023)
Background: Treatment of Wilson’s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment p
Externí odkaz:
https://doaj.org/article/ae42020f8ab94645bccc1caf7fc41bc4
Autor:
Tomasz Litwin, Jan Bembenek, Agnieszka Antos, Iwona Kurkowska-Jastrzębska, Adam Przybyłkowski, Marta Skowrońska, Łukasz Smoliński, Anna Członkowska
Publikováno v:
Biomedicines, Vol 10, Iss 9, p 2072 (2022)
Wilson’s disease (WD) is a rare, treatable genetic disorder with multi-organ symptoms related mainly to copper accumulation. Most patients become aware of the disease as young adults, thus knowledge on fertility, pregnancy course and outcome is ver
Externí odkaz:
https://doaj.org/article/8f81725100a44ad483b1bb2f5283fb8b