Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951

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

Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus

Srinivas, S., Watanabe, T., Lin, C.-S., William, C. M., Tanabe, Y., Jessell, T. M., & Costantini, F. (2001) · BMC Developmental Biology · doi:10.1186/1471-213x-1-4 · Cited by 3,121

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

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515

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

Subregion- and Cell Type–Restricted Gene Knockout in Mouse Brain

Tsien, J. Z., Chen, D. F., Gerber, D., Tom, C., Mercer, E. H., Anderson, D. J., Mayford, M., Kandel, E. R., & Tonegawa, S. (1996) · Cell · doi:10.1016/s0092-8674(00)81826-7 · Cited by 1,280

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

Derepression 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

A Role for Diminished GABA Transporter Activity in the Cortical Discharge Phenotype of MeCP2-Deficient Mice

Zhang, L., Wither, R. G., Lang, M., Wu, C., Sidorova‐Darmos, E., Netchev, H., Matolcsy, C. B., Snead, O. C., & Eubanks, J. H. (2015) · Neuropsychopharmacology · doi:10.1038/npp.2015.323 · Cited by 11

Epigenetics, Brain and Behavior

Sassone‐Corsi, P., & Christen, Y. (2012) · Research and perspectives in neurosciences · doi:10.1007/978-3-642-27913-3 · Cited by 11

Animal Models of Autism Spectrum Disorder

Erdoğan, H. (2017) · Journal of Neurology & Stroke · doi:10.15406/jnsk.2017.06.00209 · Cited by 11

Genetic deletion of NMDA receptors suppresses GABAergic synaptic transmission in two distinct types of central neurons

Gu, X., & Lü, W. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.01.024 · Cited by 11

mGlu5 in GABAergic neurons modulates spontaneous and psychostimulant-induced locomotor activity

Wu, C., Jew, C. P., Sun, H., Ballester‐Rosado, C. J., & Lu, H. (2019) · Psychopharmacology · doi:10.1007/s00213-019-05367-0 · Cited by 11

Autism Spectrum Disorders

Anderson, M. P. (2018) · Wiley eBooks · doi:10.1002/9781119013112.ch40 · Cited by 11

Nomo1 deficiency causes autism-like behavior in zebrafish

Zhang, Q., Li, F., Li, T., Lin, J., Jian, J., Zhang, Y., Chen, X., Liu, T., Gou, S., Zhang, Y., et al. (2024) · EMBO Reports · doi:10.1038/s44319-023-00036-y · Cited by 11

Atypical brain responses to 40‐Hz click trains in girls with Rett syndrome: Auditory steady‐state response and sustained wave

Neklyudova, A. K., Kuramagomedova, R. G., Voinova, V. Y., & Sysoeva, O. (2024) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.13638 · Cited by 10

Variable expression of MECP2, CDKL5, and FMR1 in the human brain: Implications for gene restorative therapies

Zito, A., & Lee, J. T. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2312757121 · Cited by 12

Neurodevelopmental defects in Dravet syndrome Scn1a+/− mice: Targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality

Pizzamiglio, L., Capitano, F., Rusina, E., Fossati, G., Menna, E., Léna, I., Antonucci, F., & Mantegazza, M. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.106853 · Cited by 10

MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies

Choi, G. T., Lee, S., Yoo, S., & Tae, J. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26178277 · Cited by 10

Mining and modeling human genetics for autism therapeutics

Smith, D. G., & Ehlers, M. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.03.004 · Cited by 10

Cell type‐specific genetic reconstitution of CB1 receptor subsets to assess their role in exploratory behaviour, sociability, and memory

Giacomo, V. D., Ruehle, S., Lutz, B., Häring, M., & Remmers, F. (2020) · European Journal of Neuroscience · doi:10.1111/ejn.15069 · Cited by 10

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Kar, K. (2022) · Journal of Neuroscience · doi:10.1523/jneurosci.2229-21.2022 · Cited by 10

Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment

Benke, D., & Möhler, H. (2017) · Neuropharmacology · doi:10.1016/j.neuropharm.2017.07.030 · Cited by 10

Bumetanide Therapeutic Effect in Children and Adolescents With Autism Spectrum Disorder: A Review Study

Mollajani, R., Joghataei, M. T., & Tehrani‐Doost, M. (2019) · Basic and Clinical Neuroscience Journal · doi:10.32598/bcn.9.10.380 · Cited by 10

Dual synaptic inhibitions of brainstem neurons by GABA and glycine with impact on Rett syndrome

Xing, H., Cui, N., Johnson, C. M., Faisthalab, Z., & Jiang, C. L. (2020) · Journal of Cellular Physiology · doi:10.1002/jcp.30098 · Cited by 10

Hyperexcitability and Loss of Feedforward Inhibition Contribute to Aberrant Plasticity in theFmr1KO Amygdala

Svalina, M. N., Guthman, E. M., Rio, C. A. C.-D., Kushner, J. K., Baca, S. M., Restrepo, D., & Huntsman, M. M. (2021) · eNeuro · doi:10.1523/eneuro.0113-21.2021 · Cited by 12

Evaluation of autoantibody signatures in pituitary adenoma patients using human proteome arrays

Banerjee, A., Ray, A., Barpanda, A., Dash, A., Gupta, I., Nissa, M. U., Zhu, H., Shah, A., Duttagupta, S. P., Goel, A. H., et al. (2022) · PROTEOMICS - CLINICAL APPLICATIONS · doi:10.1002/prca.202100111 · Cited by 10

Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability

Li, X., Nie, Y., Qiu, Z., & Wang, S. (2023) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2023.01.057 · Cited by 9

Synapses as Therapeutic Targets for Autism Spectrum Disorders: An International Symposium Held in Pavia on July 4th, 2014

Curatolo, P., Ben‐Ari, Y., Bozzi, Y., Catania, M. V., Dâ€TMAngelo, E., Mapelli, L., Oberman, L. M., Rosenmund, C., & Cherubini, E. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00309 · Cited by 11

Cell-type specific regulation of cortical excitability through the allatostatin receptor system

Ikrar, T., Shi, Y., Velasquez, T., Goulding, M., & Xu, X. (2012) · Frontiers in Neural Circuits · doi:10.3389/fncir.2012.00002 · Cited by 10

PAK1 regulates inhibitory synaptic function via a novel mechanism mediated by endocannabinoids

Xia, S., Zhou, Z., & Jia, Z. (2016) · Small GTPases · doi:10.1080/21541248.2016.1228793 · Cited by 10

ARX regulates cortical interneuron differentiation and migrationPreprint

Lim, Y., Akula, S. K., Myers, A. K., Chen, C., Rafael, K. A., Walsh, C. A., Golden, J. A., & Cho, G. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.31.578282 · Cited by 11

Neural substrates for regulating self-grooming behavior in rodents

Li, G., Lu, C., Yin, M., Wang, P., Zhang, P., Wu, J., Wang, W., Wang, D., Wang, M., Liu, J., et al. (2024) · Journal of Zhejiang University SCIENCE B · doi:10.1631/jzus.b2300562 · Cited by 11

Molecular Insights into Neurological Regression with a Focus on Rett Syndrome—A Narrative Review

Singh, J., & Santosh, P. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26115361 · Cited by 10

DNA Methylation-Dependent Dysregulation of GABAergic Interneuron Functionality in Neuropsychiatric Diseases

Linde, J., & Zimmer‐Bensch, G. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.586133 · Cited by 11

Aberrant brain functional and structural developments in MECP2 duplication rats

Xu, M. Q., Qi, S., Calhoun, V. D., Dai, J., Yu, B., Zhang, K., Pei, M., Li, C., Wei, Y., Jiang, R., et al. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105838 · Cited by 9

The clustered gamma protocadherin PcdhγC4 isoform regulates cortical interneuron programmed cell death in the mouse cortex

Mancia, W., Steffen, D. M., Dale-Huang, F., Rakela, B., Breevoort, A., Romero-Rodriguez, R., Hasenstaub, A. R., Stryker, M. P., Weiner, J. A., & Álvarez-Buylla, A. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2313596120 · Cited by 11

Ionotropic glutamate receptors (iGluRs) of the delta family (GluD1 and GluD2) and synaptogenesis

Khan, M. Z. (2016) · Alexandria Journal of Medicine · doi:10.1016/j.ajme.2016.09.003 · Cited by 9

Dexmedetomidine and propofol sedation requirements in an autistic rat model

Elmorsy, S. A., Soliman, G. F., Rashed, L. A., & Elgendy, H. M. (2018) · Korean Journal of Anesthesiology · doi:10.4097/kja.d.18.00005 · Cited by 9

Early Postnatal Treatment with Valproate Induces Gad1 Promoter Remodeling in the Brain and Reduces Apnea Episodes in Mecp2-Null Mice

Ishiyama, M., Tamura, S., Ito, H., Takei, H., Hoshi, M., Asano, M., Itoh, M., & Shirakawa, T. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20205177 · Cited by 10

Effect of steady-state response versus excitatory/inhibitory balance on spiking synchronization in neural networks with log-normal synaptic weight distribution

Nobukawa, S., Wagatsuma, N., Ikeda, T., Hasegawa, C., Kikuchi, M., & Takahashi, T. (2021) · Cognitive Neurodynamics · doi:10.1007/s11571-021-09757-z · Cited by 9

Inhibitory Synaptic Influences on Developmental Motor Disorders

Fogarty, M. J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24086962 · Cited by 9

GABA-activated Single-channel and Tonic Currents in Rat Brain Slices

Jin, Z., Jin, Y., & Birnir, B. (2011) · Journal of Visualized Experiments · doi:10.3791/2858 · Cited by 10

Hyperexcitability and brain morphological differences in mice lacking the cystine/glutamate antiporter, system x c −

Sears, S. M. S., Roberts, S. H., & Hewett, S. J. (2021) · Journal of Neuroscience Research · doi:10.1002/jnr.24971 · Cited by 9

GABAergic Circuit Development and Its Implication for CNS Disorders

Cristo, G. D., Pizzorusso, T., Cancedda, L., & Sernagor, E. (2011) · Neural Plasticity · doi:10.1155/2011/623705 · Cited by 11

Wild‐type MECP2 expression coincides with age‐dependent sensory phenotypes in a female mouse model for Rett syndrome

Mykins, M., Layo-Carris, D. E., Dunn, L. R., Skinner, D. W., McBryar, A. H., Perez, S., Shultz, T. R., Willems, A. R., Lau, B. Y. B., Hong, T., et al. (2023) · Journal of Neuroscience Research · doi:10.1002/jnr.25190 · Cited by 9

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus

Sakai, Y., Ohkubo, K., Matsushita, Y., Akamine, S., Ishizaki, Y., Torisu, H., Ihara, K., Sanefuji, M., Kim, M., Lee, K., et al. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.06.009 · Cited by 9

Neurobiology of Self-Injurious Behavior

Furniss, F., & Biswas, A. B. (2020) · Autism and child psychopathology series · doi:10.1007/978-3-030-36016-0_3 · Cited by 8

Mecp2 deletion results in profound alterations of developmental and adult functional connectivity

Rahn, R. M., Yen, A., Chen, S., Gaines, S. H., Bice, A. R., Brier, L. M., Swift, R. G., Lee, L., Maloney, S. E., Culver, J. P., et al. (2023) · Cerebral Cortex · doi:10.1093/cercor/bhad050 · Cited by 9

Advances in the pathogenesis of Rett syndrome using cell models

Lü, S., Chen, Y., & Wang, Z. (2022) · Animal Models and Experimental Medicine · doi:10.1002/ame2.12236 · Cited by 7

MeCP2 loss‐of‐function dysregulates microRNAs regionally and disrupts excitatory/inhibitory synaptic transmission balance

Horvath, P. M., Piazza, M. K., Kavalali, E. T., & Monteggia, L. M. (2022) · Hippocampus · doi:10.1002/hipo.23455 · Cited by 10

A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder

Purushotham, S. S., Reddy, N. M. N., D’Souza, M. N., Choudhury, N. R., Ganguly, A., Gopalakrishna, N., Muddashetty, R. S., & Clement, J. P. (2022) · Experimental Brain Research · doi:10.1007/s00221-022-06448-x · Cited by 8

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives

Percy, A. K., Cuddapah, V. A., Nwaobi, S. E., & Olsen, M. L. (2015) · Degenerative Neurological and Neuromuscular Disease · doi:10.2147/dnnd.s61269 · Cited by 8

The role of genes affected by human evolution marker GNA13 in schizophrenia

Xiang, B., Yang, J., Zhang, J., Yu, M., Huang, C., He, W., Lei, W., Chen, J., & Liu, K. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.109764 · Cited by 8

Neurodevelopmental Disorders

Sontheimer, H. W. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800244-5.00011-2 · Cited by 8

Psychopharmacology of Neurodevelopmental Disorders in Children

Singh, J., & Santosh, P. (2016) · Springer eBooks · doi:10.1007/978-81-322-3619-1_18 · Cited by 8

Forniceal deep brain stimulation in a mouse model of Rett syndrome increases neurogenesis and hippocampal memory beyond the treatment period

Wang, Q., Tang, B., Hao, S., Wu, Z., Yang, T., & Tang, J. (2023) · Brain stimulation · doi:10.1016/j.brs.2023.09.002 · Cited by 7

Developmental trajectory and sex differences in auditory processing in a PTEN-deletion model of autism spectrum disorders

Croom, K., Rumschlag, J. A., Molinaro, G., Erickson, M. A., Binder, D. K., Huber, K. M., & Razak, K. A. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106628 · Cited by 7

Brain-wide functional connectome analysis of 40,000 individuals reveals brain networks that show aging effects in older adults

Pan, Y., Bi, C., Kochunov, P. V., Shardell, M. D., Smith, J. C., McCoy, R. G., Ye, Z., Yu, J., Lu, T., Yang, Y., et al. (2024) · Imaging Neuroscience · doi:10.1162/imag_a_00394 · Cited by 7

Behavioral and transcriptomic analyses of mecp 2 function in zebrafish

Santistevan, N. J., Ford, C. T., Gilsdorf, C. S., & Grinblat, Y. (2024) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32981 · Cited by 7

Cell-Type-Specific Gene Inactivation and In Situ Restoration via Recombinase-Based Flipping of Targeted Genomic Region

Liu, X., Ma, L., Liu, H., Gan, J., Xu, Y., Zhang, T., Mu, P., Wu, J., Shi, Y., Zhang, Y., et al. (2020) · Journal of Neuroscience · doi:10.1523/jneurosci.1044-20.2020 · Cited by 7

Glycine substitution of α1F64 residue at the loop D of GABAA receptor impairs gating – Implications for importance of binding site-channel gate linker rigidity

Kłopotowski, K., Czyzewska, M. M., & Mozrzymas, J. W. (2021) · Biochemical Pharmacology · doi:10.1016/j.bcp.2021.114668 · Cited by 7

Normal mitral cell dendritic development in the setting of Mecp2 mutation

Palmer, A., Degano, A. L., Park, M. J., Ramamurthy, S., & Ronnett, G. V. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.11.044 · Cited by 7

Dynamic expression of neurexophilin1 during zebrafish embryonic development

Thomas-Jinu, S., & Houart, C. (2013) · Gene Expression Patterns · doi:10.1016/j.gep.2013.07.006 · Cited by 8

First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature

Gharesouran, J., Khalili, A. F., Azari, N. S., & Vahedi, L. (2015) · Epilepsy & Behavior Case Reports · doi:10.1016/j.ebcr.2014.11.001 · Cited by 7

Cell-Genotype Specific Effects of Mecp2 Mutation on Spontaneous and Nicotinic Acetylcholine Receptor-Evoked Currents in Medial Prefrontal Cortical Pyramidal Neurons in Female Rett Model Mice

Asgarihafshejani, A., Nashmi, R., & Delaney, K. R. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.07.008 · Cited by 7

Optogenetic Approaches to Understand the Neural Circuit Mechanism of Social Deficits Seen in Autism Spectrum Disorders

Nakai, N., Overton, E. T. N., & Takumi, T. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-8763-4_36 · Cited by 7

Anxiety and Stress-Related Disorders in People with Intellectual Disability/Disorders of Intellectual Development

Cooray, S. E., Tassé, M. J., Barnhill, J., & Bhaumik, S. (2022) · Springer eBooks · doi:10.1007/978-3-319-95720-3_22 · Cited by 9

Gene Therapy for Rett Syndrome: Prospects and Challenges

Gadalla, K. K. E., Ross, P. D., Hector, R. D., Bahey, N. G., Bailey, M. E. S., & Cobb, S. (2015) · Future Neurology · doi:10.2217/fnl.15.29 · Cited by 7

Experience-dependent MeCP2 expression in the excitatory cells of mouse visual thalamus

Yagasaki, Y., Miyoshi, G., & Miyata, M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0198268 · Cited by 7

Path to Treat Rett Syndrome

Percy, A. K. (2013) · Science · doi:10.1126/science.1245657 · Cited by 7

A comparative view of human and mouse telencephalon inhibitory neuron development

Chung, C., Girgiss, J., & Gleeson, J. G. (2025) · Development · doi:10.1242/dev.204306 · Cited by 6

GABAergic neurons can facilitate the propagation of cortical spreading depolarization: experiments in mouse neocortical slices and a novel neural field computational model

Baspinar, E., Simonti, M., Srour, H., Desroches, M., Avitabile, D., & Mantegazza, M. (2025) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1013099 · Cited by 6

Preclinical pharmacology of alogabat: a novel GABAA-α5 positive allosteric modulator targeting neurodevelopmental disorders with impaired GABAA signaling

Cecere, G., Ballard, T. M., Knoflach, F., Honer, M., Hipp, J. F., Garcés, P., Mueggler, T., Künnecke, B., Bruns, A., Prinssen, E. P. M., et al. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1626078 · Cited by 7

Postnatal critical-period brain plasticity and neurodevelopmental disorders: revisited circuit mechanisms

Shang, Z., & Zhang, X. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.07.006 · Cited by 6

Excitatory/inhibitory ratio disruption modulates neural synchrony and flow directions in a cortical microcircuit

Wagatsuma, N., Nobukawa, S., & Kurikawa, T. (2025) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1013306 · Cited by 6

MeCP2 regulates telencephalic development in human cerebral organoids

Tenreiro, M. F., Mohana-Borges, R., Sánchez-Sánchez, S. M., Dias, Â. R. M., Blanch, R., & Muotri, A. R. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116670 · Cited by 8

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

Perfilyeva, A. V., Беспалова, К., Perfilyeva, Y. V., Skvortsova, L., Musralina, L., Zhunussova, G., Khussainova, E., Iskakova, U., Bekmanov, B., & Djansugurova, L. (2022) · Disease Markers · doi:10.1155/2022/1509994 · Cited by 6

An investigation of the sleep macrostructure of girls with Rett syndrome

Zhang, X., Smits, M. G., Curfs, L., & Spruyt, K. (2022) · Sleep Medicine · doi:10.1016/j.sleep.2022.10.017 · Cited by 6

Selective Deletion of Methyl CpG Binding Protein 2 from Parvalbumin Interneurons in the Auditory Cortex Delays the Onset of Maternal Retrieval in Mice

Rupert, D. D., Pagliaro, A. H., Choe, J., & Shea, S. D. (2023) · Journal of Neuroscience · doi:10.1523/jneurosci.0838-23.2023 · Cited by 7

Postnatal propionic acid exposure disrupts hippocampal agmatine homeostasis leading to social deficits and cognitive impairment in autism spectrum disorder-like phenotype in rats

Tadas, M., Wankhede, N. L., Chandurkar, P. A., Kotagale, N. R., Umekar, M. J., Katariya, R., Waghade, A. M., Kokare, D. M., & Taksande, B. G. (2025) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2025.174030 · Cited by 6

Neocortical excitation/inhibition balance in information processing and social

Fenno, L. E., Prigge, M., Schneider, F., Davidson, T. J., Sohal, V. S., Goshen, I., Finkelstein, J., Paz, J. T., Stehfest, K., Fudim, R., et al. (2011) · Cited by 6

Effects of early‐life exposure to THIP on brainstem neuronal excitability in the Mecp2‐null mouse model of Rett syndrome before and after drug withdrawal

Zhong, W., Johnson, C. M., Cui, N., Oginsky, M. F., Wu, Y., & Jiang, C. L. (2017) · Physiological Reports · doi:10.14814/phy2.13110 · Cited by 6

MeCP2-deficient mice have reduced α4 and α6 nicotinic receptor mRNA and altered behavioral response to nicotinic agonists

Leung, J., McPhee, D., Renda, A., Penty, N., Farhoomand, F., Nashmi, R., & Delaney, K. R. (2017) · Behavioural Brain Research · doi:10.1016/j.bbr.2017.05.021 · Cited by 6

The Effect of Single Pyramidal Neuron Firing Within Layer 2/3 and Layer 4 in Mouse V1

Meyer, J. F., Golshani, P., & Smirnakis, S. M. (2018) · Frontiers in Neural Circuits · doi:10.3389/fncir.2018.00029 · Cited by 7

Translational Medicine Strategies in Drug Development for Neurodevelopmental Disorders

Srivastava, S., Şahin, M., & Prock, L. A. (2019) · Handbook of behavioral neuroscience · doi:10.1016/b978-0-12-803161-2.00022-9 · Cited by 6

Early Sensory Deprivation Leads to Differential Inhibitory Changes in the Striatum During Learning

Paraouty, N., & Mowery, T. M. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.670858 · Cited by 6

A single-cell atlas reveals the heterogeneity of meningeal immunity in a mouse model of Methyl CpG binding protein 2 deficiency

Li, H., Hu, M., Huang, Z., Wang, Y., Xu, Y., Deng, J., Zhu, M., Feng, W., & Xu, X. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2022.1056447 · Cited by 6

Developmental hearing loss–induced perceptual deficits are rescued by genetic restoration of cortical inhibition

Masri, S., Mowery, T. M., Fair, R., & Sanes, D. H. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2311570121 · Cited by 8

Education of a Child Neurologist: Developmental Neuroscience Relevant to Child Neurology

Johnston, M. V. (2011) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2011.06.009 · Cited by 6

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

Griswold, A. J., Booven, D. V., Cuccaro, M. L., Haines, J. L., Gilbert, J. R., & Pericak‐Vance, M. A. (2017) · Neurogenetics · doi:10.1007/s10048-017-0529-1 · Cited by 6

Hyperconnectivity of Two Separate Long-Range Cholinergic Systems Contributes to the Reorganization of the Brain Functional Connectivity during Nicotine Withdrawal in Male Mice

Carrette, L. L. G., Kimbrough, A., Davoudian, P. A., Kwan, A. C., Collazo, A., & George, O. (2023) · eNeuro · doi:10.1523/eneuro.0019-23.2023 · Cited by 6

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