Search Results - Jozef Gécz

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  1. 1
    Nonsense-mediated mRNA decay: Inter-individual variability and human disease

    Nonsense-mediated mRNA decay: Inter-individual variability and human disease by Lam Son Nguyen, Miles Wilkinson, Jozef Gécz

    Published 2013
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  2. 2
    Cerebral palsy: causes, pathways, and the role of genetic variants

    Cerebral palsy: causes, pathways, and the role of genetic variants by Alastair H. MacLennan, Suzanna Thompson, Jozef Gécz

    Published 2015
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  3. 3
    XLMR genes: update 2007

    XLMR genes: update 2007 by Pietro Chiurazzi, Charles E. Schwartz, Jozef Gécz, Giovanni Neri

    Published 2008
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  4. 4
    Mouse orthologue of ARX, a gene mutated in several X‐linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

    Mouse orthologue of ARX, a gene mutated in several X‐linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons by Elena Colombo, Rossella Galli, Giulio Cossu, Jozef Gécz, Vania Broccoli

    Published 2004
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  5. 5
    La FAM fatale: USP9X in development and disease

    La FAM fatale: USP9X in development and disease by Mariyam Murtaza, Lachlan A. Jolly, Jozef Gécz, Stephen A. Wood

    Published 2015
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  6. 6
    The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

    The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth by Lachlan A. Jolly, Claire C. Homan, R. Jacob, Simon C. Barry, Jozef Gécz

    Published 2013
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  7. 7
    The genetic basis of cerebral palsy

    The genetic basis of cerebral palsy by Michael Fahey, Alastair H. MacLennan, Doris Kretzschmar, Jozef Gécz, Michael C. Kruer

    Published 2017
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  8. 8
    Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability

    Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability by Mireille Melko, Dominique Douguet, Mounia Bensaid, Samantha Zongaro, Céline Verheggen, Jozef Gécz, Barbara Bardoni

    Published 2011
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  9. 9
    Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

    Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis by Shane Stegeman, Lachlan A. Jolly, Susitha Premarathne, Jozef Gécz, Linda J. Richards, Alan Mackay‐Sim, Stephen A. Wood

    Published 2013
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  10. 10
    A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

    A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity by Kristy L. Kolc, Lynette G. Sadleir, Ingrid E. Scheffer, Atma M. Ivancevic, Rachel Roberts, Duyen Pham, Jozef Gécz

    Published 2018
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  11. 11
    Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

    Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients by C M Butcher, Uwe Hahn, Luen Bik To, Jozef Gécz, Ella Wilkins, Hamish S. Scott, Peter Bardy, Richard J. D’Andrea

    Published 2007
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  12. 12
    FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

    FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure by Mounia Bensaid, Mireille Melko, Elías Bechara, Laëtitia Davidovic, Antonio Berretta, Maria Vincenza Catania, Jozef Gécz, Enzo Lalli, Barbara Bardoni

    Published 2009
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  13. 13
    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

    Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions by Mark Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gécz

    Published 2023
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  14. 14
    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity by Emily Brookes, Benoît Laurent, Katrin Õunap, Renée Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gécz, Yang Shi

    Published 2015
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  15. 15
    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal

    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal by Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

    Published 2015
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  16. 16
    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i>

    Defects in tRNA Anticodon Loop 2′-<i>O</i>-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in<i>FTSJ1</i> by Michael P. Guy, Marie Shaw, Catherine L. Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M. Kalscheuer, Jozef Gécz, Eric M. Phizicky

    Published 2015
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  17. 17
    Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy

    Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy by Joseph Sullivan, Boudewijn Gunning, Muhammad Zafar, Renzo Guerrini, Jozef Gécz, Kristy L. Kolc, Yufan Zhao, Maciej Ga̧sior, Alex A. Aimetti, Debopam Samanta

    Published 2023
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  18. 18
    Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

    Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders by Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz

    Published 2013
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  19. 19
    Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

    Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome by Fuxi Zhu, Fengsong Wang, Xiaoyu Yang, Jingjing Zhang, Huan Wu, Zhou Zhang, Zhiguo Zhang, Xiaojin He, Ping Zhou, Zhaolian Wei, Jozef Gécz, Yunxia Cao

    Published 2016
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  20. 20
    Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

    Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders by Ching Moey, Susan J. Hinze, Louise Brueton, Jenny Morton, Dominic McMullan, Benjamin Kamien, Christopher Barnett, Nicola Brunetti‐Pierri, Jillian Nicholl, Jozef Gécz, Cheryl Shoubridge

    Published 2015
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