Hasil Pencarian - Jozef Gecz

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  1. 1
    Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention

    Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention oleh Rebekah de Nys, Raman Kumar, Jozef Gecz

    Diterbitkan 2021-09-01
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  2. 2
    Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines

    Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines oleh Raman Kumar, Karthik S. Kamath, Luke Carroll, Peter Hoffmann, Jozef Gecz, Lachlan A. Jolly

    Diterbitkan 2022-12-01
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  3. 3
    Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.

    Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor. oleh Tessa Mattiske, May H Tan, Oliver Dearsley, Desiree Cloosterman, Charles S Hii, Jozef Gécz, Cheryl Shoubridge

    Diterbitkan 2018-01-01
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  4. 4
    Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis.

    Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis. oleh Shane Stegeman, Lachlan A Jolly, Susitha Premarathne, Jozef Gecz, Linda J Richards, Alan Mackay-Sim, Stephen A Wood

    Diterbitkan 2013-01-01
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  5. 5
    Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties

    Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties oleh Stefka Mincheva-Tasheva, Chandran Pfitzner, Raman Kumar, Idha Kurtsdotter, Michaela Scherer, Tarin Ritchie, Jonas Muhr, Jozef Gecz, Paul Q. Thomas

    Diterbitkan 2024-04-01
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  6. 6
    Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

    Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy oleh Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

    Diterbitkan 2024-01-01
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  7. 7
    PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

    PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy oleh Claire C. Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark A. Corbett, Ernst Wolvetang, Paul Q. Thomas, Lachlan A. Jolly, Jozef Gecz

    Diterbitkan 2018-08-01
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  8. 8
    USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors

    USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors oleh Caitlin R. Bridges, Men-Chee Tan, Susitha Premarathne, Devathri Nanayakkara, Bernadette Bellette, Dusan Zencak, Deepti Domingo, Jozef Gecz, Mariyam Murtaza, Lachlan A. Jolly, Stephen A. Wood

    Diterbitkan 2017-03-01
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  9. 9
    Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

    Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder oleh Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Daniella H. Hock, Zoya Kikhtyak, Liana N. Semcesen, Atsushi Morimoto, Sangmoon Lee, David A. Stroud, Joseph G. Gleeson, Eric A. Haan, Jozef Gecz

    Diterbitkan 2022-01-01
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  10. 10
    FRA2A is a CGG repeat expansion associated with silencing of AFF3.

    FRA2A is a CGG repeat expansion associated with silencing of AFF3. oleh Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

    Diterbitkan 2014-04-01
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  11. 11
    Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

    Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor oleh Raman Kumar, Elizabeth Palmer, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Dian Donnai, Ype Elgersma, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Dimitar N. Azmanov, Vanessa Atkinson, Vanessa Atkinson, Michael Black, Michael Black, Gareth Baynam, Lauren Dreyer, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz, Jozef Gecz

    Diterbitkan 2020-02-01
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  12. 12
    Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response

    Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response oleh Linhua Gan, Jingjing Sun, Shuo Yang, Xiaocui Zhang, Wu Chen, Yiyu Sun, Xiaohua Wu, Cheng Cheng, Jing Yuan, Anan Li, Mark A. Corbett, Mathew P. Dixon, Tim Thomas, Anne K. Voss, Jozef Gécz, Guang-Zhong Wang, Azad Bonni, Qian Li, Ju Huang

    Diterbitkan 2020-03-01
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  13. 13
    Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

    Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. oleh Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk

    Diterbitkan 2015-03-01
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  14. 14
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study oleh Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz

    Diterbitkan 2016-04-01
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  15. 15
    Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

    Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment oleh Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz

    Diterbitkan 2024-02-01
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  16. 16
    Missense variant contribution to USP9X-female syndrome

    Missense variant contribution to USP9X-female syndrome oleh Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz

    Diterbitkan 2020-12-01
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  17. 17
    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice oleh Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um

    Diterbitkan 2022-07-01
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  18. 18
    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

    Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X oleh Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

    Diterbitkan 2022-11-01
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  19. 19
    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 oleh Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

    Diterbitkan 2019-10-01
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  20. 20
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 oleh Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz

    Diterbitkan 2019-10-01
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