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There are 328061 results for: content related to: Novel de novo SHANK3 mutation in autistic patients

  1. You have free access to this content
    Identification of two novel Shank3 transcripts in the developing mouse neocortex

    Journal of Neurochemistry

    Volume 128, Issue 2, January 2014, Pages: 280–293, Chikako Waga, Hirotsugu Asano, Tomomi Sanagi, Eri Suzuki, Yasuko Nakamura, Akiko Tsuchiya, Masayuki Itoh, Yu-ichi Goto, Shinichi Kohsaka and Shigeo Uchino

    Version of Record online : 14 NOV 2013, DOI: 10.1111/jnc.12505

  2. A blueprint for research on Shankopathies: A view from research on autism spectrum disorder

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 85–112, Salvatore Carbonetto

    Version of Record online : 17 DEC 2013, DOI: 10.1002/dneu.22150

  3. You have free access to this content
    Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders

    Journal of Neurochemistry

    Volume 135, Issue 5, December 2015, Pages: 849–858, Carlo Sala, Cinzia Vicidomini, Ilaria Bigi, Adele Mossa and Chiara Verpelli

    Version of Record online : 3 SEP 2015, DOI: 10.1111/jnc.13232

  4. You have free access to this content
    Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder

    Genes, Brain and Behavior

    Volume 17, Issue 1, January 2018, Pages: 4–22, P.A. Kabitzke, D. Brunner, D. He, P.A. Fazio, K. Cox, J. Sutphen, L. Thiede, E. Sabath, T. Hanania, V. Alexandrov, R. Rasmusson, W. Spooren, A. Ghosh, P. Feliciano, B. Biemans, M. Benedetti and A.L. Clayton

    Version of Record online : 5 SEP 2017, DOI: 10.1111/gbb.12405

  5. Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder

    Autism Research

    Elizabeth L. Berg, Nycole A. Copping, Josef K. Rivera, Michael C. Pride, Milo Careaga, Melissa D. Bauman, Robert F. Berman, Pamela J. Lein, Hala Harony-Nicolas, Joseph D. Buxbaum, Jacob Ellegood, Jason P. Lerch, Markus Wöhr and Jill L. Silverman

    Version of Record online : 29 JAN 2018, DOI: 10.1002/aur.1925

  6. Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function

    Autism Research

    Volume 10, Issue 1, January 2017, Pages: 42–65, Thomas C. Jaramillo, Haley E. Speed, Zhong Xuan, Jeremy M. Reimers, Christine Ochoa Escamilla, Travis P. Weaver, Shunan Liu, Irina Filonova and Craig M. Powell

    Version of Record online : 5 AUG 2016, DOI: 10.1002/aur.1664

  7. Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism

    Autism Research

    Volume 9, Issue 3, March 2016, Pages: 350–375, Thomas C. Jaramillo, Haley E. Speed, Zhong Xuan, Jeremy M. Reimers, Shunan Liu and Craig M. Powell

    Version of Record online : 11 NOV 2015, DOI: 10.1002/aur.1529

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    Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor

    Journal of Neurochemistry

    Volume 97, Issue 4, May 2006, Pages: 1203–1214, Shigeo Uchino, Hidenori Wada, Shizuyo Honda, Yasuko Nakamura, Yumiko Ondo, Takayoshi Uchiyama, Moe Tsutsumi, Eri Suzuki, Takae Hirasawa and Shinichi Kohsaka

    Version of Record online : 5 APR 2006, DOI: 10.1111/j.1471-4159.2006.03831.x

  9. Therapeutic approaches for shankopathies

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 123–135, Xiaoming Wang, Alexandra L. Bey, Leeyup Chung, Andrew D. Krystal and Yong-Hui Jiang

    Version of Record online : 11 OCT 2013, DOI: 10.1002/dneu.22084

  10. Autism spectrum disorders: The quest for genetic syndromes

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 327–366, Dimitrios I. Zafeiriou, Athina Ververi, Vaios Dafoulis, Efrosini Kalyva and Euthymia Vargiami

    Version of Record online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32152

  11. The emerging role of SHANK genes in neuropsychiatric disorders

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 113–122, Audrey Guilmatre, Guillaume Huguet, Richard Delorme and Thomas Bourgeron

    Version of Record online : 7 OCT 2013, DOI: 10.1002/dneu.22128

  12. You have free access to this content
    WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1)

    The Journal of Physiology

    Volume 571, Issue 2, March 2006, Pages: 275–286, Qiang Leng, Kristopher T. Kahle, Jesse Rinehart, Gordon G. MacGregor, Frederick H. Wilson, Cecilia M. Canessa, Richard P. Lifton and Steven C. Hebert

    Version of Record online : 17 FEB 2006, DOI: 10.1113/jphysiol.2005.102202

  13. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1635–1638, Cheng Bi, Jinyu Wu, Tao Jiang, Qi Liu, Wanshi Cai, Ping Yu, Tao Cai, Mei Zhao, Yong-hui Jiang and Zhong Sheng Sun

    Version of Record online : 24 AUG 2012, DOI: 10.1002/humu.22174

  14. Investigation of SHANK3 in schizophrenia

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 174, Issue 4, June 2017, Pages: 390–398, Ana de Sena Cortabitarte, Franziska Degenhardt, Jana Strohmaier, Maren Lang, Birgit Weiss, Ralph Roeth, Ina Giegling, Stefanie Heilmann-Heimbach, Andrea Hofmann, Dan Rujescu, Christine Fischer, Marcella Rietschel, Markus M. Nöthen, Gudrun A. Rappold and Simone Berkel

    Version of Record online : 28 MAR 2017, DOI: 10.1002/ajmg.b.32528

  15. Two major distinct subpopulations of neurokinin-3 receptor-expressing neurons in the superficial dorsal horn of the rat spinal cord

    European Journal of Neuroscience

    Volume 16, Issue 3, August 2002, Pages: 551–556, Yu-Qiang Ding, Chun-Rong Lu, Hong Wang, Chang-Jun Su, Liang-Wei Chen, Yuan-Qiang Zhang and Gong Ju

    Version of Record online : 16 AUG 2002, DOI: 10.1046/j.1460-9568.2002.02135.x

  16. Annual Research Review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing – unveiling the dark matter

    Journal of Child Psychology and Psychiatry

    Volume 56, Issue 3, March 2015, Pages: 278–295, Dominik P. Kiser, Olga Rivero and Klaus-Peter Lesch

    Version of Record online : 11 FEB 2015, DOI: 10.1111/jcpp.12392

  17. You have full text access to this OnlineOpen article
    A role for synaptic zinc in ProSAP/Shank PSD scaffold malformation in autism spectrum disorders

    Developmental Neurobiology

    Volume 74, Issue 2, February 2014, Pages: 136–146, Andreas M. Grabrucker

    Version of Record online : 10 SEP 2013, DOI: 10.1002/dneu.22089

  18. Overview of Mouse Models of Autism Spectrum Disorders

    Unit

    Current Protocols in Pharmacology

    5:5.66.1–5.66.26

    Alexandra L. Bey and Yong-hui Jiang

    Published Online : 2 SEP 2014, DOI: 10.1002/0471141755.ph0566s66

  19. You have free access to this content
    The mode of reproductive-derived Spink (serine protease inhibitor Kazal-type) action in the modulation of mammalian sperm activity

    International Journal of Andrology

    Volume 35, Issue 1, February 2012, Pages: 52–62, C.-M. Ou, J.-B. Tang, M.-S. Huang, P. S. Sudhakar Gandhi, S. Geetha, S.-H. Li and Y.-H. Chen

    Version of Record online : 10 AUG 2011, DOI: 10.1111/j.1365-2605.2011.01159.x

  20. Synaptic basis of social dysfunction: a focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs

    European Journal of Neuroscience

    Volume 39, Issue 7, April 2014, Pages: 1114–1129, Eoin C. O'Connor, Sebastiano Bariselli and Camilla Bellone

    Version of Record online : 8 APR 2014, DOI: 10.1111/ejn.12510