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Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
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The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function. The top-down approaches using human phenotypes and genetics helped identify causative genes and uncovered the broad spectrum of neuropsychiatric features that can result from various mutations in the same gene. Importantly, the human studies unveiled the exquisite sensitivity of cognitive function to precise levels of many diverse proteins. Bottom-up approaches applying molecular, biochemical, and neurophysiological studies to genetic models of these disorders revealed unsuspected pathogenic mechanisms and identified potential therapeutic targets. Moreover, studies in model organisms showed that symptoms of these devastating disorders can be reversed, which brings hope that affected individuals might benefit from interventions even after symptoms set in. Scientists predict that insights gained from studying these rare syndromic disorders will have an impact on the more common nonsyndromic autism and mild cognitive deficits.
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“Not surprisingly, neurotransmitter and synaptic pathways were implicated in multiple brain disorders, supporting decades of studies highlighting the importance of synaptic function in psychiatric disorders19.”
From A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles (2020) · cites this paper as [19]
In the citing paper
“In some cases, the mutations are limited to a specific gene and result in syndromic neurodevelopmental disorders with highly penetrant features of autism. These include Fragile X syndrome, tuberous sclerosis complex, Angelman syndrome, Timothy syndrome and Rett syndrome2.”
From Activity-dependent neuronal signalling and autism spectrum disorder (2013) · cites this paper as [2]
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“Consistently, increased spine density is observed in frontal, temporal, and parietal lobes in ASD brains (Hutsler and Zhang, 2010) and changes in synaptic structure are detected in multiple ASD model mice (Zoghbi and Bear, 2012).”
From Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits (2014) · cites this paper as Zoghbi and Bear, 2012
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Cites
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951
(1943) · The Nervous child · Cited by 8,870
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Jones, P. L., Veenstra, G. J. C., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., & Wolffe, A. P. (1998) · Nature Genetics · doi:10.1038/561 · Cited by 2,791
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Baird, G., Simonoff, E., Pickles, A., Chandler, S., Loucas, T., Meldrum, D., & Charman, T. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69041-7 · Cited by 2,104
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
Neuroligins and neurexins link synaptic function to cognitive disease
Südhof, T. C. (2008) · Nature · doi:10.1038/nature07456 · Cited by 1,849
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823
Self-citationThe Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793
Conserved role of intragenic DNA methylation in regulating alternative promoters
Maunakea, A. K., Nagarajan, R. P., Bilenky, M., Ballinger, T. J., D’Souza, C., Fouse, S. D., Johnson, B. E., Hong, C., Nielsen, C., Zhao, Y., et al. (2010) · Nature · doi:10.1038/nature09165 · Cited by 1,743
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602
The mGluR theory of fragile X mental retardation
Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580
Self-citationShank3 mutant mice display autistic-like behaviours and striatal dysfunction
Peça, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., Lascola, C. D., Fu, Z., & Feng, G. (2011) · Nature · doi:10.1038/nature09965 · Cited by 1,570
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515
Rett syndrome: Revised diagnostic criteria and nomenclature
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., Leonard, H., Bailey, M. E. S., Schanen, N. C., Zappella, M., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22124 · Cited by 1,437
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405
Trinucleotide Repeat Disorders
Orr, H. T., & Zoghbi, H. Y. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113042 · Cited by 1,394
Self-citationIdentification and Characterization of a Family of Mammalian Methyl-CpG Binding Proteins
Hendrich, B., & Bird, A. P. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.11.6538 · Cited by 1,386
Lewis, J. D., Meehan, R. R., Henzel, W. J., Maurer-Fogy, I., Jeppesen, P., Klein, F., & Bird, A. (1992) · Cell · doi:10.1016/0092-8674(92)90610-o · Cited by 1,371
Marchetto, M. C. N., Carromeu, C., Acab, A., Yu, D., Yeo, G. W., Mu, Y., Chen, G., Gage, F. H., & Muotri, A. R. (2010) · Cell · doi:10.1016/j.cell.2010.10.016 · Cited by 1,329
UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Self-citationDerepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
Guy, J., Gan, J., Selfridge, J., Cobb, S., & Bird, A. (2007) · Science · doi:10.1126/science.1138389 · Cited by 1,230
Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
Scheiffele, P., Fan, J., Choih, J., Fetter, R., & Serafini, T. (2000) · Cell · doi:10.1016/s0092-8674(00)80877-6 · Cited by 1,218
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature · doi:10.1038/376348a0 · Cited by 1,217
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Travis, W. D., Castile, R. G., Vawter, G. F., Shwachman, H., Warwick, W. J., Burke, B. A., & Skinner, M. M. (1986) · American Journal of Clinical Pathology · doi:10.1093/ajcp/85.4.419 · Cited by 1,189
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168
Self-citationCuratolo, P., Bombardieri, R., & Jóźwiak, S. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61279-9 · Cited by 1,106
Coupling of mGluR/Homer and PSD-95 Complexes by the Shank Family of Postsynaptic Density Proteins
Tu, J. C., Xiao, B., Naisbitt, S. R., Yuan, J. P., Petralia, R. S., Brakeman, P., Doan, A., Aakalu, V. K., Lanahan, A. A., Sheng, M., et al. (1999) · Neuron · doi:10.1016/s0896-6273(00)80810-7 · Cited by 1,079
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046
Neurexins Induce Differentiation of GABA and Glutamate Postsynaptic Specializations via Neuroligins
Graf, E. R., Zhang, X., Jin, S., Linhoff, M. W., & Craig, A. M. (2004) · Cell · doi:10.1016/j.cell.2004.11.035 · Cited by 1,029
Naisbitt, S., Kim, E., Tu, J. C., Xiao, B., Sala, C., Valtschanoff, J., Weinberg, R. J., Worley, P. F., & Sheng, M. (1999) · Neuron · doi:10.1016/s0896-6273(00)80809-0 · Cited by 1,009
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007) · Science · doi:10.1126/science.1146221 · Cited by 997
Correction of Fragile X Syndrome in Mice
Dölen, G., Osterweil, E., Rao, B. S. S., Smith, G. B., Auerbach, B. D., Chattarji, S., & Bear, M. F. (2007) · Neuron · doi:10.1016/j.neuron.2007.12.001 · Cited by 979
Self-citationBehavioral Alterations in Rats Prenatally Exposed to Valproic Acid: Animal Model of Autism
Schneider, T., & Przewłocki, R. (2005) · Neuropsychopharmacology · doi:10.1038/sj.npp.1300518 · Cited by 959
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Ehninger, D., Han, S., Shilyansky, C., Zhou, Y., Li, W., Kwiatkowski, D. J., Ramesh, V., & Silva, A. J. (2008) · Nature Medicine · doi:10.1038/nm1788 · Cited by 882
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., & Lalande, M. (1989) · Nature · doi:10.1038/342281a0 · Cited by 878
Zhou, Z., Hong, E. J., Cohen, S., Zhao, W.-N., Ho, H.-Y. H., Schmidt, L., Chen, W. G., Lin, Y., Savner, E., Griffith, E. C., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.037 · Cited by 877
Tu, J. C., Xiao, B., Yuan, J. P., Lanahan, A. A., Leoffert, K., Li, M., Linden, D. J., & Worley, P. F. (1998) · Neuron · doi:10.1016/s0896-6273(00)80589-9 · Cited by 862
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
Neuroligins Determine Synapse Maturation and Function
Varoqueaux, F., Aramuni, G., Rawson, R. L., Mohrmann, R., Missler, M., Gottmann, K., Zhang, W., Südhof, T. C., & Brose, N. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.003 · Cited by 837
Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains
MOY, S., NADLER, J., YOUNG, N., PEREZ, A., HOLLOWAY, L., BARBARO, R., BARBARO, J., WILSON, L., THREADGILL, D., & LAUDER, J. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.07.030 · Cited by 776
Shahbazian, M. D., Young, J. I., Yuva‐Paylor, L. A., Spencer, C. M., Antalffy, B. A., Noebels, J. L., Armstrong, D. L., Paylor, R. E., & Zoghbi, H. Y. (2002) · Neuron · doi:10.1016/s0896-6273(02)00768-7 · Cited by 772
Self-citationLaumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768
Binding of Neuroligins to PSD-95
Irie, M., Hata, Y., Takeuchi, M., Ichtchenko, K., Toyoda, A., Hirao, K., Takai, Y., Rosahl, T. W., & Südhof, T. C. (1997) · Science · doi:10.1126/science.277.5331.1511 · Cited by 749
Tuchman, R. F., & Rapin, I. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00160-6 · Cited by 727
Regulation of Dendritic Spine Morphology and Synaptic Function by Shank and Homer
Sala, C., Piëch, V., Wilson, N. R., Passafaro, M., Liu, G., & Sheng, M. (2001) · Neuron · doi:10.1016/s0896-6273(01)00339-7 · Cited by 716
(1966) · PubMed · Cited by 708
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
Missler, M., Zhang, W., Rohlmann, A., Kattenstroth, G., Hammer, R. E., Gottmann, K., & Südhof, T. C. (2003) · Nature · doi:10.1038/nature01755 · Cited by 699
Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State
Skene, P. J., Illingworth, R. S., Webb, S., Kerr, A. R. W., James, K. D., Turner, D. J., Andrews, R., & Bird, A. P. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.01.030 · Cited by 688
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681
Neuroligin 1: A splice site-specific ligand for β-neurexins
Ichtchenko, K., Hata, Y., Nguyen, T., Ullrich, B., Missler, M., Moomaw, C. R., & Südhof, T. C. (1995) · Cell · doi:10.1016/0092-8674(95)90396-8 · Cited by 663
Esch, H. V., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M., Hollanders, K., Lugtenberg, D., Bienvenu, T., Jensen, L. R., Gécz, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/444549 · Cited by 647
Dani, V. S., Chang, Q., Maffei, A., Turrigiano, G. G., Jaenisch, R., & Nelson, S. B. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506071102 · Cited by 639
Dendritic Spine Structural Anomalies in Fragile-X Mental Retardation Syndrome
Irwin, S. A. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.1038 · Cited by 626
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R., Armstrong, D. L., Noebels, J. L., David Sweatt, J., & Zoghbi, H. Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh282 · Cited by 626
Self-citationLubs, H. A. (1969) · PubMed · Cited by 610
Jacquemont, S., Curie, A., des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., Ramos, F. J., Cornish, K., He, Y., Paulding, C., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001708 · Cited by 609
The Postsynaptic Organization of Synapses
Sheng, M., & Kim, E. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005678 · Cited by 603
The Autistic Neuron: Troubled Translation?
Kelleher, R. J., & Bear, M. F. (2008) · Cell · doi:10.1016/j.cell.2008.10.017 · Cited by 598
Self-citationChubykin, A. A., Atasoy, D., Etherton, M. R., Brose, N., Kavalali, E. T., Gibson, J. R., & Südhof, T. C. (2007) · Neuron · doi:10.1016/j.neuron.2007.05.029 · Cited by 594
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Tropea, D., Giacometti, E., Wilson, N. R., Beard, C., McCurry, C., Fu, D. D., Flannery, R., Jaenisch, R., & Sur, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812394106 · Cited by 593
Bozdagi, O., Sakurai, T., Papapetrou, D., Wang, X., Dickstein, D. L., Takahashi, N., Kajiwara, Y., Yang, M., Katz, A. M., Scattoni, M. L., et al. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-15 · Cited by 584
Disruption of neurexin 1 associated with autism spectrum disorder
Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.011 · Cited by 578
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
Chang, Q., Khare, G., Dani, V., Nelson, S., & Jaenisch, R. (2006) · Neuron · doi:10.1016/j.neuron.2005.12.027 · Cited by 578
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., et al. (2010) · Nature Genetics · doi:10.1038/ng.589 · Cited by 563
A clinical study of 57 children with fetal anticonvulsant syndromes
Moore, S. J., Turnpenny, P., Quinn, A., Glover, S., Lloyd, D. J., Montgomery, T., & Dean, J. C. S. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.7.489 · Cited by 562
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A., Winter, D., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711555105 · Cited by 556
Shahbazian, M. D. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.115 · Cited by 554
Hata, Y., Butz, S., & Sudhof, T. (1996) · The Journal of Neuroscience · doi:10.1523/jneurosci.16-08-02488.1996 · Cited by 553
Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome
Moretti, P., Levenson, J. M., Battaglia, F., Atkinson, R., Teague, R., Antalffy, B., Armstrong, D., Arancio, O., Sweatt, J. D., & Zoghbi, H. Y. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.2623-05.2006 · Cited by 545
Self-citationValproate: a reappraisal of its pharmacodynamic properties and mechanisms of action
Löscher, W. (1999) · Progress in Neurobiology · doi:10.1016/s0301-0082(98)00075-6 · Cited by 532
‘Puppet’ Children A Report on Three Cases
Angelman, H. (1965) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1965.tb07844.x · Cited by 525
MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number
Chao, H.-T., Zoghbi, H. Y., & Rosenmund, C. (2007) · Neuron · doi:10.1016/j.neuron.2007.08.018 · Cited by 511
Self-citationMeikle, L. M., Pollizzi, K. N., Egnor, A., Kramvis, I., Lane, H. A., Şahin, M., & Kwiatkowski, D. J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0955-08.2008 · Cited by 509
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G. (2008) · Neurology · doi:10.1212/01.wnl.0000291011.54508.aa · Cited by 498
Self-citation(1988) · PubMed · Cited by 489
Roelfsema, J. H., White, S. J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G. B., Breuning, M. H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429130 · Cited by 487
A Decade of Molecular Studies of Fragile X Syndrome
O'Donnell, W. T., & Warren, S. T. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142909 · Cited by 487
New views of Arc, a master regulator of synaptic plasticity
Shepherd, J. D., & Bear, M. F. (2011) · Nature Neuroscience · doi:10.1038/nn.2708 · Cited by 481
Self-citationA PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
Martin, J. P., & Bell, J. (1943) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.6.3-4.154 · Cited by 481
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471
Structures, Alternative Splicing, and Neurexin Binding of Multiple Neuroligins
Ichtchenko, K., Nguyen, T., & Südhof, T. C. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.5.2676 · Cited by 468
Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
Ballas, N., Lioy, D. T., Grunseich, C., & Mandel, G. (2009) · Nature Neuroscience · doi:10.1038/nn.2275 · Cited by 466
Bilousova, T. V., Dansie, L., Ngo, M., Aye, J., Charles, J. R., Ethell, D. W., & Ethell, I. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061796 · Cited by 465
AUTISM IN THALIDOMIDE EMBRYOPATHY: A POPULATION STUDY
Strömland, K., Nordin, V., Miller, M. T., Åkerström, B., & Gillberg, C. (1994) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1994.tb11856.x · Cited by 453
Kishi, N., & Macklis, J. D. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.006 · Cited by 445
In utero exposure to valproic acid and autism — A current review of clinical and animal studies
Roullet, F., Lai, J., & Foster, J. A. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2013.01.004 · Cited by 444
Zhou, J., Blundell, J., Ogawa, S., Kwon, C.-H., Zhang, W., Sinton, C., Powell, C. M., & Parada, L. F. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.5685-08.2009 · Cited by 441
Silverman, J. L., Tolu, S. S., Barkan, C. L., & Crawley, J. N. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2009.201 · Cited by 438
The tuberous sclerosis complex
Orlova, K. A., & Crino, P. B. (2009) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2009.05117.x · Cited by 414
DiLiberti, J. H., Farndon, P. A., Dennis, N. R., & Curry, C. J. (1984) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320190308 · Cited by 397
Abnormal Fear Conditioning and Amygdala Processing in an Animal Model of Autism
Markram, H., Barkat, T. R., Mendola, D. L., Sandi, C., & Markram, H. (2007) · Neuropsychopharmacology · doi:10.1038/sj.npp.1301453 · Cited by 392
Yasui, D. H., Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P., Thatcher, K. N., Farnham, P., & LaSalle, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707442104 · Cited by 388
Osterweil, E. K., Krueger, D. D., Reinhold, K., & Bear, M. F. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.3888-10.2010 · Cited by 384
Self-citationIngram, J. L., Peckham, S. M., Tisdale, B., & Rodier, P. M. (2000) · Neurotoxicology and Teratology · doi:10.1016/s0892-0362(99)00083-5 · Cited by 381
Arndt, T. L., Stodgell, C., & Rodier, P. M. (2005) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.11.001 · Cited by 378
DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes
Grzadzinski, R., Huerta, M., & Lord, C. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-12 · Cited by 378
Wilson, H. L., Wong, A. C. C., Shaw, S. R., Tse, W.-Y., Stapleton, G. A., Phelan, M. C., Hu, S., Marshall, J., & McDermid, H. E. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.8.575 · Cited by 377
Neurexins: three genes and 1001 products.
Missler, M., & Südhof, T. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(97)01324-3 · Cited by 376
Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906232107 · Cited by 369
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301832 · Cited by 369
Neuroligin‐3‐deficient mice: model of a monogenic heritable form of autism with an olfactory deficit
Radyushkin, K., Hammerschmidt, K., Boretius, S., Varoqueaux, F., El-Kordi, A., Ronnenberg, A., Winter, D., Frahm, J., Fischer, J., Brose, N., et al. (2009) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2009.00487.x · Cited by 362
Rett Syndrome Microglia Damage Dendrites and Synapses by the Elevated Release of Glutamate
Maezawa, I., & Jin, L. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.5966-09.2010 · Cited by 356
Restricted and Repetitive Behaviors in Young Children with Autism Spectrum Disorders
Richler, J., Bishop, S. L., Kleinke, J. R., & Lord, C. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0332-6 · Cited by 355
Tudor, M., Akbarian, S., Chen, R. Z., & Jaenisch, R. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242566899 · Cited by 352
Hung, A. Y., Futai, K., Sala, C., Valtschanoff, J. G., Ryu, J., Woodworth, M. A., Kidd, F. L., Sung, C. C., Miyakawa, T., Bear, M. F., et al. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.3032-07.2008 · Cited by 350
Self-citationSchneider, T., Roman, A., Basta‐Kaim, A., Kubera, M., Budziszewska, B., Schneider, K., & Przewłocki, R. (2008) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2008.02.011 · Cited by 350
Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
Asaka, Y., Jugloff, D. G. M., Zhang, L., Eubanks, J. H., & Fitzsimonds, R. M. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.07.005 · Cited by 349
Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.004 · Cited by 345
The neurobiology of social play and its rewarding value in rats
Vanderschuren, L. J. M. J., Achterberg, E. J. M., & Trezza, V. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.07.025 · Cited by 329
Ube3a is required for experience-dependent maturation of the neocortex
Yashiro, K., Riday, T. T., Condon, K. H., Roberts, A. C., Bernardo, D. R., Prakash, R., Weinberg, R. J., Ehlers, M. D., & Philpot, B. D. (2009) · Nature Neuroscience · doi:10.1038/nn.2327 · Cited by 328
Current Protocols in Neuroscience
Laimbacher, A. S., & Fraefel, C. (2001) · John Wiley & Sons, Inc. eBooks · doi:10.1002/0471142301 · Cited by 326
Synaptic regulation of protein synthesis and the fragile X protein
Greenough, W. T., Klintsova, A. Y., Irwin, S. A., Galvez, R., Bates, K. E., & Weiler, I. J. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.141145998 · Cited by 317
Validating γ oscillations and delayed auditory responses as translational biomarkers of autism
Gandal, M. J., Edgar, J. C., Ehrlichman, R. S., Mehta, M., Roberts, T. P. L., & Siegel, S. J. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.09.031 · Cited by 314
Postsynaptic assembly induced by neurexin-neuroligin interaction and neurotransmitter
Nam, C. I., & Chen, L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0502038102 · Cited by 314
Olmos-Serrano, J. L., Paluszkiewicz, S. M., Martin, B. S., Kaufmann, W. E., Corbin, J. G., & Huntsman, M. M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.1714-10.2010 · Cited by 309
Bonaglia, M. C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., & Zuffardi, O. (2001) · The American Journal of Human Genetics · doi:10.1086/321293 · Cited by 309
The MECP2 duplication syndrome
Ramocki, M. B., Tavyev, Y. J., & Peters, S. U. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33184 · Cited by 308
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
Ching, M. S. L., Shen, Y., Tan, W., Jeste, S., Morrow, E. M., Chen, X., Mukaddes, N. M., Yoo, S.-Y., Hanson, E. M., Hundley, R. J., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31063 · Cited by 306
Structure and Evolution of Neurexin Genes: Insight into the Mechanism of Alternative Splicing
Tabuchi, K., & Südhof, T. C. (2002) · Genomics · doi:10.1006/geno.2002.6780 · Cited by 305
Ramocki, M. B., Peters, S. U., Tavyev, Y. J., Zhang, F., Carvalho, C. M. B., Schaaf, C. P., Richman, R., Fang, P., Glaze, D. G., Lupski, J. R., et al. (2009) · Annals of Neurology · doi:10.1002/ana.21715 · Cited by 304
Self-citationNovel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299
Characterization of the Shank Family of Synaptic Proteins
Lim, S., Naisbitt, S., Yoon, J., Hwang, J.-I., Suh, P.-G., Sheng, M., & Kim, E. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.41.29510 · Cited by 295
Shank Expression Is Sufficient to Induce Functional Dendritic Spine Synapses in Aspiny Neurons
Roussignol, G., Ango, F., Romorini, S., Tu, J. C., Sala, C., Worley, P. F., Bockaert, J., & Fagni, L. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.4354-04.2005 · Cited by 293
Rinaldi, T., Kulangara, K., Antoniello, K., & Markram, H. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704391104 · Cited by 290
Rett Syndrome Astrocytes Are Abnormal and Spread MeCP2 Deficiency through Gap Junctions
Maezawa, I., Swanberg, S. E., Harvey, D. J., LaSalle, J. M., & Jin, L. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0324-09.2009 · Cited by 289
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
Gauthier, J., Siddiqui, T. J., Huashan, P., Yokomaku, D., Hamdan, F. F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafrenière, R. G., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0975-z · Cited by 286
van Woerden, G. M., Harris, K. D., Hojjati, M. R., Gustin, R. M., Qiu, S., de Avila Freire, R., Jiang, Y.-H., Elgersma, Y., & Weeber, E. J. (2007) · Nature Neuroscience · doi:10.1038/nn1845 · Cited by 281
Familial deletion within NLGN4 associated with autism and Tourette syndrome
Lawson‐Yuen, A., Saldivar, J., Sommer, S. S., & Picker, J. D. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202006 · Cited by 276
Belichenko, P. V., Wright, E. E., Belichenko, N. P., Masliah, E., Li, H. H., Mobley, W. C., & Francke, U. (2009) · Journal of Comparative Neurology · doi:10.1002/cne.22009 · Cited by 272
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Giacometti, E., Luikenhuis, S., Beard, C., & Jaenisch, R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610593104 · Cited by 271
del Gaudio, D., Fang, P., Scaglia, F., Ward, P. A., Craigen, W. J., Glaze, D. G., Neul, J. L., Patel, A., Lee, J. A., Irons, M., et al. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000250502.28516.3c · Cited by 271
Self-citationQin, M., Kang, J., Burlin, T. V., Jiang, C., & Smith, C. B. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.0093-05.2005 · Cited by 263
Samaco, R. C., Mandel‐Brehm, C., Chao, H.-T., Ward, C. S., Fyffe-Maricich, S. L., Ren, J. T., Hyland, Κ., Christina Thaller, B., Maricich, S. M., Humphreys, P., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912257106 · Cited by 259
Self-citationToward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
Krueger, D. D., & Bear, M. F. (2011) · Annual Review of Medicine · doi:10.1146/annurev-med-061109-134644 · Cited by 259
Self-citationBoeckers, T. M., Kreutz, M. R., Winter, C., Zuschratter, W., Smalla, K.-H., Sanmarti-Vila, L., Wex, H., Langnaese, K., Bockmann, J., Garner, C. C., et al. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-15-06506.1999 · Cited by 257
Du, Y., Weed, S. A., Xiong, W.-C., Marshall, T. D., & Parsons, J. T. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.10.5838 · Cited by 254
Fyffe, S. L., Neul, J. L., Samaco, R. C., Chao, H.-T., Ben-Shachar, S., Moretti, P., McGill, B. E., Goulding, E. H., Sullivan, E., Tecott, L. H., et al. (2008) · Neuron · doi:10.1016/j.neuron.2008.07.030 · Cited by 254
Self-citationIdentification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
Chang, S., Bray, S. M., Li, Z., Zarnescu, D. C., He, C., Jin, P., & Warren, S. T. (2008) · Nature Chemical Biology · doi:10.1038/nchembio.78 · Cited by 254
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
Ronesi, J. A., Collins, K. A., Hays, S. A., Tsai, N.-P., Guo, W., Birnbaum, S. G., Hu, J.-H., Worley, P. F., Gibson, J. R., & Huber, K. M. (2012) · Nature Neuroscience · doi:10.1038/nn.3033 · Cited by 251
Clayton‐Smith, J. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460105 · Cited by 249
Wu, L., Toyoda, H., Zhao, M., Lee, Y., Tang, J., Ko, S. W., Jia, Y. H., Shum, F. W. F., Zerbinatti, C., Bu, G., et al. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.1678-05.2005 · Cited by 248
Gemelli, T., Berton, O., Nelson, E. D., Perrotti, L. I., Jaenisch, R., & Monteggia, L. M. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.07.025 · Cited by 244
Tsc2-Rheb signaling regulates EphA-mediated axon guidance
Nie, D. A., Nardo, A. D., Han, J. M., Baharanyi, H., Kramvis, I., Huynh, T., Dabora, S. L., Codeluppi, S., Pandolfi, P. P., Pasquale, E. B., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2477 · Cited by 243
Gross, C., Nakamoto, M., Yao, X., Chan, C.-B., Yim, S. Y., Ye, K., Warren, S. T., & Bassell, G. J. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.0402-10.2010 · Cited by 241
Is angelman syndrome an alternate result of del(15)(qllql3)?
Magenis, R. E., Brown, M. G., Lacy, D. A., Budden, S. S., LAFRANCHI, S. H., Opitz, J. M., Reynolds, J. F., & Ledbetter, D. H. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320280407 · Cited by 240
Early Defects of GABAergic Synapses in the Brain Stem of a MeCP2 Mouse Model of Rett Syndrome
Medrihan, L., Tantalaki, E., Aramuni, G., Sargsyan, V., Dudanova, I., Missler, M., & Zhang, W. (2007) · Journal of Neurophysiology · doi:10.1152/jn.00826.2007 · Cited by 237
Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function
Tao, J., Hu, K., Chang, Q., Wu, H., Sherman, N. E., Martinowich, K., Klose, R. J., Schanen, C., Jaenisch, R., Wang, W., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811648106 · Cited by 232
Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures
Goorden, S. M. I., van Woerden, G. M., van der Weerd, L., Cheadle, J. P., & Elgersma, Y. (2007) · Annals of Neurology · doi:10.1002/ana.21317 · Cited by 230
Meur, N. L., Holder‐Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati‐Bonneau, P., Guichet, A., Barth, M., Charollais, A., Journel, H., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069732 · Cited by 228
Meins, M., Lehmann, J., Gerresheim, F., Herchenbach, J., Hagedorn, M., Hameister, K., & Epplen, J. T. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023804 · Cited by 224
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
Ehninger, D., & Silva, A. J. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.10.002 · Cited by 223
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model
Ricciardi, S., Boggio, E. M., Grosso, S., Lonetti, G., Forlani, G., Stefanelli, G., Calcagno, E., Morello, N., Landsberger, N., Biffo, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq563 · Cited by 223
Phelan, M. C. (2008) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-3-14 · Cited by 221
Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS)
Hagerman, P. J., & Hagerman, R. J. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20005 · Cited by 219
The oxytocin system in drug discovery for autism: Animal models and novel therapeutic strategies
Modi, M. E., & Young, L. J. (2012) · Hormones and Behavior · doi:10.1016/j.yhbeh.2011.12.010 · Cited by 218
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex
Numis, A. L., Major, P., Montenegro, M. A., Muzykewicz, D. A., Pulsifer, M. B., & Thiele, E. A. (2011) · Neurology · doi:10.1212/wnl.0b013e3182104347 · Cited by 214
Pelka, G. J., Watson, C. M., Radziewic, T., Hayward, M., Lahooti, H., Christodoulou, J., & Tam, P. (2006) · Brain · doi:10.1093/brain/awl022 · Cited by 213
Kim, K. C., Kim, P., Go, H. S., Choi, C. S., Park, J. H., Kim, H. J., Jeon, S. J., dela Pena, I. C., Han, S., Cheong, J. H., et al. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12147 · Cited by 212
Rinaldi, T. (2008) · Frontiers in Neural Circuits · doi:10.3389/neuro.04.004.2008 · Cited by 210
Reversing Neurodevelopmental Disorders in Adults
Ehninger, D., Li, W., Fox, K., Stryker, M. P., & Silva, A. J. (2008) · Neuron · doi:10.1016/j.neuron.2008.12.007 · Cited by 196
NMDA receptor dysfunction in autism spectrum disorders
Lee, E.-J., Choi, S. Y., & Kim, E. (2015) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2014.10.007 · Cited by 192
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
Nuber, U. A., Kriaučionis, S., Roloff, T. C., Guy, J., Selfridge, J., Steinhoff, C., Schulz, R., Lipkowitz, B., Ropers, H., Holmes, M. C., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi229 · Cited by 190
Mehta, M. V., Gandal, M. J., & Siegel, S. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026077 · Cited by 188
Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Rooney, R. J., Patel, D. H., & Thuras, P. D. (2010) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0924-z · Cited by 182
A male with fetal valproate syndrome and autism
Williams, P. G., & Hersh, J. H. (1997) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1997.tb07500.x · Cited by 182
Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction inMecp2-Null Mice
Kline, D. D., Ogier, M., Kunze, D. L., & Katz, D. M. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.5503-09.2010 · Cited by 177
Fragile X: Leading the Way for Targeted Treatments in Autism
Wang, L. W., Berry-Kravis, E., & Hagerman, R. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.005 · Cited by 176
Behavior and serotonergic disorders in rats exposed prenatally to valproate: A model for autism
Dufour-Rainfray, D., Vourc’h, P., Le Guisquet, A.-M., Garreau, L., Ternant, D., Bodard, S., Jaumain, E., Gulhan, Z., Belzung, C., Andres, C. R., et al. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2009.12.054 · Cited by 168
Loss of Arc renders the visual cortex impervious to the effects of sensory experience or deprivation
McCurry, C. L., Shepherd, J. D., Tropea, D., Wang, K. H., Bear, M. F., & Sur, M. (2010) · Nature Neuroscience · doi:10.1038/nn.2508 · Cited by 159
Self-citationGenomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
Sato, M., & Stryker, M. P. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1001281107 · Cited by 155
Zhang, L., He, J., Jugloff, D. G. M., & Eubanks, J. H. (2007) · Hippocampus · doi:10.1002/hipo.20389 · Cited by 154
General developmental health in the VPA-rat model of autism
Favre, M., Barkat, T. R., Mendola, D. L., Khazen, G., Markram, H., & Markram, H. (2013) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2013.00088 · Cited by 152
Autism in Fetal Alcohol Syndrome: A Report of Six Cases
Nanson, J. L. (1992) · Alcoholism Clinical and Experimental Research · doi:10.1111/j.1530-0277.1992.tb01417.x · Cited by 152
Anxiety Disorders in Adults with Autism Spectrum Disorder: A Population-Based Study
Nimmo‐Smith, V., Heuvelman, H., Dalman, C., Lundberg, M., Nordström, S. I., Carpenter, P. K., Magnusson, C., & Rai, D. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-04234-3 · Cited by 151
MeCP2 Binds Cooperatively to Its Substrate and Competes with Histone H1 for Chromatin Binding Sites
Ghosh, R. P., Horowitz-Scherer, R. A., Tv, N., Shlyakhtenko, L. S., & Woodcock, C. L. F. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.00379-10 · Cited by 150
Aschrafi, A., Cunningham, B. A., Edelman, G. M., & Vanderklish, P. W. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0409803102 · Cited by 148
Zitzer, H., Hönck, H., Bächner, D., Richter, D., & Kreienkamp, H. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.46.32997 · Cited by 143
An update on anxiety in youth with autism spectrum disorders
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Metadata
- Authors
- Zoghbi, H. Y., & Bear, M. F.
- Affiliations
- Howard Hughes Medical Institute (US)
- Venue
- Cold Spring Harbor Perspectives in Biology
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2012-01-18
- Volume
- 4
- Issue
- 3
- Pages
- a009886-a009886
- ISSN
- 1943-0264 (ISSN-L)
- PMC
- PMC3282414
- OpenAlex
- W2147140183
- Cited by
- 797
- References
- 268
- Citations by year
- 2026: 40 · 2025: 44 · 2024: 59 · 2023: 50 · 2022: 53 · 2021: 75 · 2020: 87 · 2019: 66 · 2018: 52 · 2017: 61 · 2016: 66 · 2015: 49 · 2014: 46 · 2013: 32 · 2012: 15
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cold Spring Harbor Perspectives in Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- synaptic dysfunction, neurodevelopmental disorders, autism spectrum disorder, intellectual disability, syndromic autism, genetic causes of autism, neuropsychiatric features, cognitive function, genetic models, model organisms, therapeutic target
- MeSH terms
- Animals, Child, Child Development Disorders, Pervasive, Disease Models, Animal, Gene Expression Regulation, Humans, Intellectual Disability, Synaptic Transmission, Cell Adhesion Molecules, Neuronal
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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