检索结果 - J. Lloyd Holder

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  1. 1
    The spectrum of epilepsy and electroencephalographic abnormalities due to <i><scp>SHANK</scp>3</i> loss‐of‐function mutations

    The spectrum of epilepsy and electroencephalographic abnormalities due to <i><scp>SHANK</scp>3</i> loss‐of‐function mutations 由 J. Lloyd Holder, Michael Quach

    出版 2016
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  2. 2
    The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

    The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators 由 Monica Weldon, Murat Kılınç, J. Lloyd Holder, Gavin Rumbaugh

    出版 2018
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  3. 3
    Sim1 Haploinsufficiency Impairs Melanocortin-Mediated Anorexia and Activation of Paraventricular Nucleus Neurons

    Sim1 Haploinsufficiency Impairs Melanocortin-Mediated Anorexia and Activation of Paraventricular Nucleus Neurons 由 Bassil Kublaoui, J. Lloyd Holder, Terry Gemelli, Andrew R. Zinn

    出版 2006
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  4. 4
    Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

    Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome 由 Constance Smith‐Hicks, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, J. Lloyd Holder

    出版 2021
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  5. 5
    The Transcriptional Repressor DEC2 Regulates Sleep Length in Mammals

    The Transcriptional Repressor DEC2 Regulates Sleep Length in Mammals 由 Ying He, Christopher R. Jones, Nobuhiro Fujiki, Ying Xu, Bin Guo, J. Lloyd Holder, Moritz J. Rossner, Seiji Nishino, Ying‐Hui Fu

    出版 2009
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  6. 6
    Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

    Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior 由 Thomas K. Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissière, Murat Kılınç, Andrés Jiménez-Gómez, J. Lloyd Holder, Jianrong Tang, Laura L Colgin, Courtney A. Miller, Gavin Rumbaugh

    出版 2019
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  7. 7
    Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

    Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression 由 Andrés Jiménez-Gómez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder

    出版 2019
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  8. 8
    SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits

    SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits 由 Sheldon D. Michaelson, Emin D. Ozkan, Massimiliano Aceti, Sabyasachi Maity, Nerea Llamosas, Monica Weldon, Elisa Mizrachi, Thomas Vaissière, Michael A. Gaffield, Jason M. Christie, J. Lloyd Holder, Courtney A. Miller, Gavin Rumbaugh

    出版 2018
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  9. 9
    RNA-based translation activators for targeted gene upregulation

    RNA-based translation activators for targeted gene upregulation 由 Yang Cao, Huachun Liu, Shannon S. Lu, Krysten A. Jones, Anitha P. Govind, Okunola Jeyifous, Christine Q. Simmons, Negar Tabatabaei, William N. Green, J. Lloyd Holder, Soroush Tahmasebi, Alfred L. George, Bryan C. Dickinson

    出版 2023
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  10. 10
    <i>SYNGAP1</i>Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons

    <i>SYNGAP1</i>Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons 由 Nerea Llamosas, Vineet Arora, Ridhima Vij, Murat Kılınç, Łukasz Bijoch, Camilo Rojas, Adrian Reich, BanuPriya Sridharan, Erik Willems, David R. Piper, Louis Scampavia, Timothy Spicer, Courtney A. Miller, J. Lloyd Holder, Gavin Rumbaugh

    出版 2020
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  11. 11
    Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

    Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations 由 Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, M. Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon

    出版 2018
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  12. 12
    SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

    SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties 由 Kihoon Han, J. Lloyd Holder, Christian P. Schaaf, Hui Lü, Hongmei Chen, Hyojin Kang, Jianrong Tang, Zhenyu Wu, Shuang Hao, Sau Wai Cheung, Peng Yu, Hao Sun, Amy M. Breman, Ankita Patel, Hui‐Chen Lu, Huda Y. Zoghbi

    出版 2013
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  13. 13
    An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

    An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function 由 Li Wang, Kaifang Pang, Kihoon Han, Carolyn J. Adamski, Wei Wang, Ling-jie He, Jason Lai, Vitaliy V. Bondar, Joseph G. Duman, Ronald Richman, Kimberley F. Tolias, Patrick Barth, Timothy Palzkill, Zhandong Liu, J. Lloyd Holder, Huda Y. Zoghbi

    出版 2019
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  14. 14
    Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

    Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 由 Sirisha Peddibhotla, Sandesh C.S. Nagamani, Ayelet Erez, Jill V. Hunter, J. Lloyd Holder, Mary E. Carlin, Patricia I. Bader, Helene MF Perras, Judith Allanson, Leslie C. Newman, Gayle Simpson, LaDonna Immken, Erin Powell, Aaron Mohanty, Sung-Hae L. Kang, Paweł Stankiewicz, Carlos A. Bacino, Weimin Bi, Ankita Patel, Sau Wai Cheung

    出版 2014
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  15. 15
    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

    A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures 由 Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, Li Wang, Carolyn J. Adamski, Amanda Koire, Lauren See, Chun‐An Chen, Christian P. Schaaf, Jill A. Rosenfeld, Jessica A. Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P. Kirk, Paweł Stankiewicz, Amy M. Breman, Arran McBride, Tejaswi Kandula, Holly Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith‐Rae Dias, Megan T. Cho, Lindsay B. Henderson, Berivan Baskin, Paula Morris, Tao Jiang, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M. Boycott, J. Lloyd Holder, Huda Y. Zoghbi

    出版 2018
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  16. 16
    Updated consensus guidelines on the management of Phelan–McDermid syndrome

    Updated consensus guidelines on the management of Phelan–McDermid syndrome 由 Siddharth Srivastava, Mustafa Şahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante‐Otoo, William E. Bennett, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos‐Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L Cully, Kira A. Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Andrés Jiménez-Gómez, Carolyn A. Kerins, Omar Khan, Teresa M. Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann M. Neumeyer, Scott M. Paul, Katy Phelan, Antonio M. Persico, Robert Rapaport, Curtis Rogers, Jeffrey M. Saland, Swathi Sethuram, J Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon

    出版 2023
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  17. 17
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation 由 Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    出版 2016
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  18. 18
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... 由 Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    出版 2019
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