Resultats de la cerca - Magdaléna Harakaľová

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  1. 1
    Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy

    Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy per Laura Louzao-Martinez, Aryan Vink, Magdaléna Harakaľová, Folkert W. Asselbergs, Marianne C. Verhaar, Caroline Cheng

    Publicat 2016
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  2. 2
    From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy

    From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy per Rogier J. A. Veltrop, M. M. Kukk, K. Topouzidou, L. Didden, Antoine Muchir, Frank G. van Steenbeek, Leon J. Schurgers, Magdaléna Harakaľová

    Publicat 2024
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  3. 3
    Genotype‐specific pathogenic effects in human dilated cardiomyopathy

    Genotype‐specific pathogenic effects in human dilated cardiomyopathy per Ilse A. E. Bollen, Maike Schuldt, Magdaléna Harakaľová, Aryan Vink, Folkert W. Asselbergs, José R. Pinto, Martina Krüger, Diederik W.D. Kuster, Jolanda van der Velden

    Publicat 2017
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  4. 4
    Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease

    Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease per Claartje Meddens, Magdaléna Harakaľová, Noortje A. M. van den Dungen, Hassan Foroughi Asl, Hemme Hijma, Edwin Cuppen, Johan Björkegren, Folkert W. Asselbergs, Edward E. S. Nieuwenhuis, Michal Mokrý

    Publicat 2016
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  5. 5
    A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle‐specific genes

    A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle‐specific genes per Magdaléna Harakaľová, Gijs J.M. Kummeling, Arjan Sammani, Marijke Linschoten, Annette F. Baas, Jasper van der Smagt, Pieter A. Doevendans, J. Peter van Tintelen, Dennis Dooijes, Michal Mokrý, Folkert W. Asselbergs

    Publicat 2015
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  6. 6
    Joubert syndrome: genotyping a Northern European patient cohort

    Joubert syndrome: genotyping a Northern European patient cohort per Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften

    Publicat 2015
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  7. 7
    UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking

    UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking per Arjan Sammani, M. Jansen, Marijke Linschoten, Ayoub Bagheri, Nicolaas de Jonge, Hans Kirkels, Linda W. van Laake, Aryan Vink, J. Peter van Tintelen, Dennis Dooijes, Anneline S.J.M. te Riele, Magdaléna Harakaľová, Annette F. Baas, Folkert W. Asselbergs

    Publicat 2019
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  8. 8
    Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies

    Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies per Shahrzad Sepehrkhouy, Johannes M.I.H. Gho, René van Es, Magdaléna Harakaľová, Nicolaas de Jonge, Dennis Dooijes, Jasper J. van der Smagt, Marc P. Buijsrogge, Richard N.W. Hauer, Roel Goldschmeding, Roel A. de Weger, Folkert W. Asselbergs, Aryan Vink

    Publicat 2017
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  9. 9
    Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes

    Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes per Daiane Hemerich, Jiayi Pei, Magdaléna Harakaľová, Jessica van Setten, Sander Boymans, Bastiaan J. Boukens, Igor R. Efimov, Michelle Michels, Jolanda van der Velden, Aryan Vink, Caroline Cheng, Pim van der Harst, Jason H. Moore, Michal Mokrý, Vinicius Tragante, Folkert W. Asselbergs

    Publicat 2019
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  10. 10
    Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

    Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation per Louise Gregory, Carolina Baeta Neves Duarte Ferreira, Sara K. Young, Hywel Williams, Magdaléna Harakaľová, Gijs van Haaften, Sofia Rahman, Carles Gaston‐Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul Dattani

    Publicat 2019
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  11. 11
    Gene expression profiling of hypertrophic cardiomyocytes identifies new players in pathological remodelling

    Gene expression profiling of hypertrophic cardiomyocytes identifies new players in pathological remodelling per Marta Vigil‐Garcia, Charlotte J. Demkes, Joep Eding, Daniëlle Versteeg, Hesther de Ruiter, Ilaria Perini, Lieneke Kooijman, Monika M Gladka, Folkert W. Asselbergs, Aryan Vink, Magdaléna Harakaľová, A Bossu, Toon A.B. van Veen, Cornelis J. Boogerd, Eva van Rooij

    Publicat 2020
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  12. 12
    Massive expansion and cryopreservation of functional human induced pluripotent stem cell-derived cardiomyocytes

    Massive expansion and cryopreservation of functional human induced pluripotent stem cell-derived cardiomyocytes per Renée G. C. Maas, Soah Lee, Magdaléna Harakaľová, C. Snijders Blok, William R. Goodyer, Jesper Hjortnaes, Pieter A. Doevendans, Linda W. van Laake, Jolanda van der Velden, Folkert W. Asselbergs, Joseph C. Wu, Joost P. G. Sluijter, Sean M. Wu, Jan W. Buikema

    Publicat 2021
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  13. 13
    HFrEF subphenotypes based on 4210 repeatedly measured circulating proteins are driven by different biological mechanisms

    HFrEF subphenotypes based on 4210 repeatedly measured circulating proteins are driven by different biological mechanisms per Teun B. Petersen, Marie de Bakker, Folkert W. Asselbergs, Magdaléna Harakaľová, K. Martijn Akkerhuis, Jasper J. Brugts, Jan van Ramshorst, R. Thomas Lumbers, Rachel Ostroff, Peter D. Katsikis, Peter J. van der Spek, Victor A. Umans, Eric Boersma, Dimitris Rizopoulos, Isabella Kardys

    Publicat 2023
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  14. 14
    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity per Dragana Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju Mehta, Magdaléna Harakaľová, Karen Duran, Sanne M. C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst

    Publicat 2016
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  15. 15
    Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy

    Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy per Maike Schuldt, Jiayi Pei, Magdaléna Harakaľová, L. M. Dorsch, Saskia Schlossarek, Michal Mokrý, Jaco C. Knol, Thang V. Pham, Tim Schelfhorst, Sander R. Piersma, Cristobal G. dos Remedios, Michiel Dalinghaus, Michelle Michels, Folkert W. Asselbergs, Marie‐Jo Moutin, Lucie Carrier, Connie R. Jiménez, Jolanda van der Velden, Diederik W.D. Kuster

    Publicat 2021
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  16. 16
    Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy

    Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy per Dries Feyen, Isaac Perea‐Gil, Renée G. C. Maas, Magdaléna Harakaľová, Alexandra A. Gavidia, Jennifer Arthur Ataam, Ting-Hsuan Wu, Aryan Vink, Jiayi Pei, Nirmal Vadgama, Albert J.H. Suurmeijer, Wouter P. te Rijdt, Michelle M. Vu, Prashila Amatya, Maricela Prado, Yuan Zhang, Logan Dunkenberger, Joost P. G. Sluijter, Karim Sallam, Folkert W. Asselbergs, Mark Mercola, Ioannis Karakikes

    Publicat 2021
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  17. 17
    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization per Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, Jos P.N. Ruiter, Marjolein Turkenburg, Maartje J. Geerlings, Karen Duran, Magdaléna Harakaľová, Bert van der Zwaag, Ardeshir A. Monavari, İlyas Okur, Mark Sharrard, Maureen Cleary, N.H. O’Connell, Valerie Walker, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Gepke Visser, Roderick H.J. Houwen, Jasper J. van der Smagt, Nanda M. Verhoeven‐Duif, Ronald J. A. Wanders, Gijs van Haaften

    Publicat 2014
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  18. 18
    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease per Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor, Deborah Ritter, Sandesh C.S. Nagamani, Owen S. Wells, Magdaléna Harakaľová, Iván K. Chinn, Aaron Alt, Lucie Vondrová, Ron Hochstenbach, Joris M. van Montfrans, Suzanne Terheggen‐Lagro, Stef van Lieshout, Markus J. van Roosmalen, Ivo Renkens, Karen Duran, Isaäc J. Nijman, Wigard P. Kloosterman, Eric A. M. Hennekam, Jordan S. Orange, Peter M. van Hasselt, David A. Wheeler, Jan Paleček, Alan R. Lehmann, Antony W. Oliver, Laurence H. Pearl, Sharon E. Plon, Johanne M. Murray, Gijs van Haaften

    Publicat 2016
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  19. 19
    The Translational Landscape of the Human Heart

    The Translational Landscape of the Human Heart per Sebastiaan van Heesch, Franziska Witte, Valentin Schneider-Lunitz, Jana Felicitas Schulz, Eleonora Adami, Allison Faber, Marieluise Kirchner, Henrike Maatz, Susanne Blachut, Clara-Louisa Sandmann, Masatoshi Kanda, Catherine L. Worth, Sebastian Schäfer, Lorenzo Calviello, Rhys Merriott, Giannino Patone, Oliver Hummel, Emanuel Wyler, Benedikt Obermayer, Michael Benedikt Mücke, Eric L. Lindberg, Franziska Trnka, Sebastian Memczak, Marcel Schilling, Leanne E. Felkin, Paul J.R. Barton, Nicholas M. Quaife, Konstantinos Vanezis, Sebastian Diecke, Masaya Mukai, Nancy Mah, Su-Jun Oh, Armin Kurtz, Christoph Schramm, Dorothee Schwinge, Marcial Sebode, Magdaléna Harakaľová, Folkert W. Asselbergs, Aryan Vink, Roel A. de Weger, Sivakumar Viswanathan, Anissa A. Widjaja, Anna Gärtner-Rommel, Hendrik Milting, Cristobal G. dos Remedios, Christoph Knosalla, Philipp Mertins, Markus Landthaler, Martin Vingron, Wolfgang A. Linke, Jonathan G. Seidman, Christine E. Seidman, Nikolaus Rajewsky, Uwe Ohler, Stuart A. Cook, Norbert Hübner

    Publicat 2019
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  20. 20
    Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

    Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 per Sophie Garnier, Magdaléna Harakaľová, Stefan Weiß, Michal Mokrý, Vera Regitz‐Zagrosek, Christian Hengstenberg, Thomas P. Cappola, Richard Isnard, Eloisa Arbustini, Stuart A. Cook, Jessica van Setten, Jorg J. A. Calis, Hákon Hákonarson, Michael P. Morley, Klaus Stark, Sanjay Prasad, Jin Li, Declan P. O’Regan, Maurizia Grasso, Martina Müller‐Nurasyid, Thomas Meitinger, Jean‐Philippe Empana, Konstantin Strauch, Mélanie Waldenberger, Kenneth B. Marguiles, Christine E. Seidman, Georgios Kararigas, Benjamin Meder, Jan Haas, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Jeanette Erdmann, Stefan Blankenberg, Thomas Wichter, Volker Ruppert, Luigi Tavazzi, Olivier Dubourg, Gérard Roizès, Richard Dorent, Pascal de Groote, Laurent Fauchier, Jean‐Noël Trochu, Jean‐François Aupetit, Zofia T. Bilińska, Marine Germain, Uwe Völker, Daiane Hemerich, Ibticem Raji, Delphine Bacq‐Daian, Carole Proust, Paloma Remior, Manuel Gómez‐Bueno, Kristin Lehnert, Renée G. C. Maas, Robert Olaso, Ganapathi Varma Saripella, Stephan B. Felix, Steven McGinn, Laëtitia Duboscq-Bidot, Alain van Mil, Céline Besse, Vincent Fontaine, Hélène Blanché, Flavie Ader, Brendan J. Keating, Angélique Curjol, Anne Boland, Michel Komajda, François Cambien, Jean‐François Deleuze, Marcus Dörr, Folkert W. Asselbergs, Eric Villard, David‐Alexandre Trégouët, Philippe Charron

    Publicat 2021
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