検索結果 - Tiziano Pramparo

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  1. 1
    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis 著者: Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson

    出版事項 2023
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    Artigo
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  2. 2
    Distinct Dose-Dependent Cortical Neuronal Migration and Neurite Extension Defects in<i>Lis1</i>and<i>Ndel1</i>Mutant Mice

    Distinct Dose-Dependent Cortical Neuronal Migration and Neurite Extension Defects in<i>Lis1</i>and<i>Ndel1</i>Mutant Mice 著者: Yong Ha Youn, Tiziano Pramparo, Shinji Hirotsune, Anthony Wynshaw‐Boris

    出版事項 2009
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    Artigo
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  3. 3
    Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

    Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies 著者: Anthony Wynshaw‐Boris, Tiziano Pramparo, Yong Ha Youn, Shinji Hirotsune

    出版事項 2010
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    Revisão
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  4. 4
    TBX1 is required for inner ear morphogenesis

    TBX1 is required for inner ear morphogenesis 著者: Francesca Vitelli, Antonella Viola, Masae Morishima, Tiziano Pramparo, Antonio Baldini, Elizabeth Lindsay

    出版事項 2003
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    Artigo
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  5. 5
    Novel Embryonic Neuronal Migration and Proliferation Defects in<i>Dcx</i>Mutant Mice Are Exacerbated by<i>Lis1</i>Reduction

    Novel Embryonic Neuronal Migration and Proliferation Defects in<i>Dcx</i>Mutant Mice Are Exacerbated by<i>Lis1</i>Reduction 著者: Tiziano Pramparo, Yong Ha Youn, Jessica Yingling, Shinji Hirotsune, Anthony Wynshaw‐Boris

    出版事項 2010
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    Artigo
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  6. 6
    The ASD Living Biology: from cell proliferation to clinical phenotype

    The ASD Living Biology: from cell proliferation to clinical phenotype 著者: Eric Courchesne, Tiziano Pramparo, Vahid Gazestani, Michael Lombardo, Karen Pierce, Nathan E. Lewis

    出版事項 2018
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  7. 7
    Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder

    Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder 著者: Michael Lombardo, Hayoung Moon, Jennifer Su, Theo D. Palmer, Eric Courchesne, Tiziano Pramparo

    出版事項 2017
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    Artigo
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  8. 8
    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities

    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities 著者: Amy Kritzer, Rana Dutta, Tiziano Pramparo, Jolan Terner-Rosenthal, Pamela Vig, Robert D. Steiner

    出版事項 2025
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  9. 9
    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome 著者: María Clara Bonaglia, Roberto Giorda, Elisa Mani, Giammarco Aceti, B-M Anderlid, Anna Baroncini, Tiziano Pramparo, Orsetta Zuffardi

    出版事項 2005
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  10. 10
    Neuroepithelial Stem Cell Proliferation Requires LIS1 for Precise Spindle Orientation and Symmetric Division

    Neuroepithelial Stem Cell Proliferation Requires LIS1 for Precise Spindle Orientation and Symmetric Division 著者: Jessica Yingling, Yong Ha Youn, Dawn L. Darling, Kazuhito Toyo‐oka, Tiziano Pramparo, Shinji Hirotsune, Anthony Wynshaw‐Boris

    出版事項 2008
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    Artigo
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  11. 11
    Global Developmental Gene Expression and Pathway Analysis of Normal Brain Development and Mouse Models of Human Neuronal Migration Defects

    Global Developmental Gene Expression and Pathway Analysis of Normal Brain Development and Mouse Models of Human Neuronal Migration Defects 著者: Tiziano Pramparo, Ondrej Libiger, Sonia Jain, Hong Li, Yong Ha Youn, Shinji Hirotsune, Nicholas J. Schork, Anthony Wynshaw‐Boris

    出版事項 2011
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    Artigo
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  12. 12
    A perturbed gene network containing PI3K–AKT, RAS–ERK and WNT–β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity

    A perturbed gene network containing PI3K–AKT, RAS–ERK and WNT–β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity 著者: Vahid Gazestani, Tiziano Pramparo, Srinivasa Nalabolu, Benjamin P. Kellman, Sarah S. Murray, Linda Lopez, Karen Pierce, Eric Courchesne, Nathan E. Lewis

    出版事項 2019
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    Artigo
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  13. 13
    Sparsentan ameliorates glomerular hypercellularity and inflammatory-gene networks induced by IgA1-IgG immune complexes in a mouse model of IgA nephropathy

    Sparsentan ameliorates glomerular hypercellularity and inflammatory-gene networks induced by IgA1-IgG immune complexes in a mouse model of IgA nephropathy 著者: Colin Reily, Zina Moldoveanu, Tiziano Pramparo, Stacy Hall, Zhiqiang Huang, Terri Rice, Lea Novak, Radko Komers, Celia Jenkinson, Jan Novák

    出版事項 2024
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    Artigo
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  14. 14
    Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes

    Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes 著者: Michael Lombardo, Tiziano Pramparo, Vahid Gazestani, Varun Warrier, Richard A.I. Bethlehem, Cynthia Carter Barnes, Linda Lopez, Nathan E. Lewis, Lisa T. Eyler, Karen Pierce, Eric Courchesne

    出版事項 2018
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    Artigo
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  15. 15
    Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice

    Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice 著者: Dominic Cosgrove, Michael Anne Gratton, Jacob Madison, Denise Vosik, Gina Samuelson, Daniel T. Meehan, Duane Delimont, Grady Phillips, Brendan Smyth, Tiziano Pramparo, Diana Jarocki, Mai Thanh Nguyen, Radko Komers, Celia Jenkinson

    出版事項 2023
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    Artigo
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  16. 16
    Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers

    Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers 著者: Tiziano Pramparo, Michael Lombardo, Kathleen Campbell, Cynthia Carter Barnes, Steven Marinero, Stephanie Solso, J. Christopher Young, Maisi Mayo, Anders M. Dale, Clelia Ahrens‐Barbeau, Sarah S. Murray, Linda Lopez, Nathan E. Lewis, Karen Pierce, Eric Courchesne

    出版事項 2015
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    Artigo
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  17. 17
    Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

    Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages 著者: Maggie Chow, Tiziano Pramparo, Mary E. Winn, Cynthia Carter Barnes, Hai-Ri Li, Lauren A. Weiss, Jian-Bing Fan, Sarah S. Murray, Craig April, Haim Belinson, Xiang-Dong Fu, Anthony Wynshaw‐Boris, Nicholas J. Schork, Eric Courchesne

    出版事項 2012
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    Revisão
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  18. 18
    Sex-specific impact of prenatal androgens on social brain default mode subsystems

    Sex-specific impact of prenatal androgens on social brain default mode subsystems 著者: Michael Lombardo, Bonnie Auyeung, Tiziano Pramparo, Angélique Quartier, Jérémie Courraud, Rosemary Holt, Jack Waldman, Amber Ruigrok, Natasha Mooney, Richard A.I. Bethlehem, Meng‐Chuan Lai, Prantik Kundu, Edward T. Bullmore, Jean‐Louis Mandel, Amélie Piton, Simon Baron‐Cohen

    出版事項 2018
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    Artigo
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  19. 19
    Atypical genomic cortical patterning in autism with poor early language outcome

    Atypical genomic cortical patterning in autism with poor early language outcome 著者: Michael Lombardo, Lisa T. Eyler, Tiziano Pramparo, Vahid Gazestani, Donald J. Hagler, Chi‐Hua Chen, Anders M. Dale, Jakob Seidlitz, Richard A.I. Bethlehem, Natasha Bertelsen, Cynthia Carter Barnes, Linda Lopez, Kathleen Campbell, Nathan E. Lewis, Karen Pierce, Eric Courchesne

    出版事項 2021
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    Artigo
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  20. 20
    Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

    Altered proliferation and networks in neural cells derived from idiopathic autistic individuals 著者: Maria C. Marchetto, Haim Belinson, Yuan Tian, Bruna Carolina Barbosa Freitas, Fuliang Cao, Krishna C. Vadodaria, Patrícia Cristina Baleeiro Beltrão-Braga, Cleber A. Trujillo, Ana P. D. Mendes, Krishnan Padmanabhan, Yanelli Nunez, Ou Jiang, Hiyaa S. Ghosh, Rebecca A. Wright, Kristen Brennand, Karen Pierce, Lawrence F. Eichenfield, Tiziano Pramparo, Lisa T. Eyler, Cynthia Carter Barnes, Eric Courchesne, Daniel H. Geschwind, Fred H. Gage, Anthony Wynshaw‐Boris, Alysson R. Muotri

    出版事項 2016
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    Artigo
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