Výsledky vyhledávání - Snezana Maljevic

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  1. 1
    Nervous system K<sub>V</sub>7 disorders: breakdown of a subthreshold brake

    Nervous system K<sub>V</sub>7 disorders: breakdown of a subthreshold brake Autor Snezana Maljevic, Thomas V. Wuttke, Holger Lerche

    Vydáno 2008
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  2. 2
    Models for discovery of targeted therapy in genetic epileptic encephalopathies

    Models for discovery of targeted therapy in genetic epileptic encephalopathies Autor Snezana Maljevic, Christopher A. Reid, Steven Petrou

    Vydáno 2017
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  3. 3
    Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

    Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies Autor Julia Oyrer, Snezana Maljevic, Ingrid E. Scheffer, Samuel F. Berkovic, Steven Petrou, Christopher A. Reid

    Vydáno 2017
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  4. 4
    <i>SCN1A</i> gain of function in early infantile encephalopathy

    <i>SCN1A</i> gain of function in early infantile encephalopathy Autor Géza Berecki, Alexander Bryson, Jan Terhag, Snezana Maljevic, Elena V. Gazina, Sean Hill, Steven Petrou

    Vydáno 2019
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  5. 5
    SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model

    SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model Autor Pascal Lösing, Cristina Elena Niturad, Merle Harrer, Christopher Meyer zu Reckendorf, Theresa Schatz, Daniela Sinske, Holger Lerche, Snezana Maljevic, Bernd Knöll

    Vydáno 2017
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  6. 6
    Zebrafish Bioassay-Guided Microfractionation Identifies Anticonvulsant Steroid Glycosides from the Philippine Medicinal Plant <i>Solanum torvum</i>

    Zebrafish Bioassay-Guided Microfractionation Identifies Anticonvulsant Steroid Glycosides from the Philippine Medicinal Plant <i>Solanum torvum</i> Autor Soura Challal, Olivia Erin M Buenafe, Emerson Ferreira Queiroz, Snezana Maljevic, Laurence Marcourt, Merle Bock, Werner Kloeti, Fabian M. Dayrit, Alan L. Harvey, Holger Lerche, Camila V. Esguerra, Peter de Witte, Jean‐Luc Wolfender, Alexander D. Crawford

    Vydáno 2014
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  7. 7
    Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

    Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy Autor Lauren E. Bleakley, Chaseley E. McKenzie, Ming S. Soh, Ian C. Forster, Paulo Pinares-Garcia, Alicia Sedo, Anirudh Kathirvel, Leonid Churilov, Nikola Jancovski, Snezana Maljevic, Samuel F. Berkovic, Ingrid E. Scheffer, Steven Petrou, Bina Santoro, Christopher A. Reid

    Vydáno 2021
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  8. 8
    Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

    Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy Autor Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, Julika Pitsch, Lieve Claes, Dimitrina Hristova, Albena Jordanova, Sirpa Ala‐Mello, A Bellan-Koch, Dragica Blazevic, Simone J.A. Schubert, Evan A. Thomas, Steven Petrou, Albert J. Becker, Peter De Jonghe, Holger Lerche

    Vydáno 2010
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  9. 9
    Dominant <i>KCNA2</i> mutation causes episodic ataxia and pharmacoresponsive epilepsy

    Dominant <i>KCNA2</i> mutation causes episodic ataxia and pharmacoresponsive epilepsy Autor Mark Corbett, Susannah T. Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L. Carvill, Candace T. Myers, Katherine B. Howell, Snezana Maljevic, Holger Lerche, Elena V. Gazina, Heather C. Mefford, Melanie Bahlo, Samuel F. Berkovic, Steven Petrou, Ingrid E. Scheffer, Jozef Gécz

    Vydáno 2016
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  10. 10
    Antisense oligonucleotide therapy for KCNT1 encephalopathy

    Antisense oligonucleotide therapy for KCNT1 encephalopathy Autor Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, Paymaan Jafar‐Nejad, Kay Richards, Alicia Sedo, Armand Soriano, Ben Rollo, Linghan Jia, Elena V. Gazina, Sandra Piltz, Fatwa Adikusuma, Paul Q. Thomas, Helen Kopsidas, Frank Rigo, Christopher A. Reid, Snezana Maljevic, Steven Petrou

    Vydáno 2022
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  11. 11
    Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model

    Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model Autor Melody Li, Nikola Jancovski, Paymaan Jafar‐Nejad, Lisseth Estefania Burbano, Ben Rollo, Kay Richards, Lisa Drew, Alicia Sedo, Jacqueline Heighway, Svenja Pachernegg, Armand Soriano, Linghan Jia, Todd Blackburn, Blaine R. Roberts, Alex Nemiroff, Kelley Dalby, Snezana Maljevic, Christopher A. Reid, Frank Rigo, Steven Petrou

    Vydáno 2021
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  12. 12
    Retraction Note: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

    Retraction Note: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies Autor Karsten Haug, Maike Warnstedt, Alexi K. Alekov, Thomas Sander, Alfredo Ramı́rez, Barbara Poser, Snezana Maljevic, Simon Hebeisen, Christian Kubisch, Johannes Rebstock, Steve Horvath, Kerstin Hallmann, Joern Dullinger, Birgit Rau, Fritz Haverkamp, Stefan Beyenburg, Herbert Schulz, Diéter Janz, B. Giese, Gerhard Müller‐Newen, Peter Propping, Christian E. Elger, Christoph Fahlke, Holger Lerche, Armin Heils

    Vydáno 2009
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  13. 13
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations Autor Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Vydáno 2019
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  14. 14
    Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

    Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies Autor Karsten Haug, Maike Warnstedt, Alexi K. Alekov, Thomas Sander, Alfredo Ramı́rez, Barbara Poser, Snezana Maljevic, Simon Hebeisen, Christian Kubisch, Johannes Rebstock, Steve Horvath, Kerstin Hallmann, Joern Dullinger, Birgit Rau, Fritz Haverkamp, Stefan Beyenburg, Herbert Schulz, Diéter Janz, B. Giese, Gerhard Müller‐Newen, Peter Propping, Christian E. Elger, Christoph Fahlke, Holger Lerche, Armin Heils

    Vydáno 2003
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  15. 15
    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak Autor Yvonne G. Weber, Alexander Storch, Thomas V. Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A. Schneider, Stephan M. Huber, Arnulf Pekrun, Robert Roebling, Guiscard Seebohm, Saisudha Koka, Camelia Lang, Eduard Kraft, Dragica Blazevic, Alberto Salvo‐Vargas, Michael Fauler, Felix M. Mottaghy, Alexander Münchau, Mark J. Edwards, Anna Presicci, Francesco Margari, Thomas Gasser, Florian Läng, Kailash P. Bhatia, Frank Lehmann‐Horn, Holger Lerche

    Vydáno 2008
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  16. 16
    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 Autor Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V. Wuttke, Yvonne G. Weber, Holger Lerche, Zaid Afawi, Wim Vandenberghe, Amos D. Korczyn, Samuel F. Berkovic, Dana Ekstein, Sara Kivity, Philippe Ryvlin, Laurence Claes, Liesbet Deprez, Snezana Maljevic, A. Vargas, Tine Van Dyck, D. Goossens, Jurgen Del‐Favero, Koen Van Laere, Peter De Jonghe, Wim Van Paesschen

    Vydáno 2008
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  17. 17
    Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia–Reperfusion Injury

    Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia–Reperfusion Injury Autor Meredith A. Redd, S. Scheuer, Natalie J. Saez, Yusuke Yoshikawa, Han Sheng Chiu, Ling Gao, Mark Hicks, J. Villanueva, Yashutosh Joshi, Chun Yuen Chow, Gabriel Cuéllar-Partida, Jason N. Peart, Louise E. See Hoe, Xiaoli Chen, Yuliangzi Sun, Jacky Y. Suen, Robert J. Hatch, Ben Rollo, Di Xia, Mubarak A. Alzubaidi, Snezana Maljevic, Gregory A. Quaife-Ryan, James E. Hudson, Enzo R. Porrello, Melanie Y. White, Stuart J. Cordwell, John F. Fraser, Steven Petrou, Melissa E. Reichelt, Walter G. Thomas, Glenn F. King, Peter S. Macdonald, Nathan J. Palpant

    Vydáno 2021
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  18. 18
    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features Autor Cristina Elena Niturad, Dorit Lev, Vera M. Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman‐Sagie, Hester Y. Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzońca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Hölger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A. Haas, Peter Nürnberg, Koen L.I. van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky‐Silver

    Vydáno 2017
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  19. 19
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> Autor Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    Vydáno 2017
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  20. 20
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Autor Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    Vydáno 2015
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