Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

Whole-genome sequencing of quartet families with autism spectrum disorder

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glycine receptors control the generation of projection neurons in the developing cerebral cortex

(2014) A Avila et al.   CELL DEATH AND DIFFERENTIATION

Changes in neural network homeostasis trigger neuropsychiatric symptoms

(2014) Aline Winkelmann et al.   JOURNAL OF CLINICAL INVESTIGATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

The impact of human hyperekplexia mutations on glycine receptor structure and function

(2014) Anna Bode et al.   Molecular Brain

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

(2013) R. H. Thomas et al.   BRAIN

The Rodent Hippocampus Is Essential for Nonspatial Object Memory

(2013) Sarah J. Cohen et al.   CURRENT BIOLOGY

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Glycine Receptor α2 Subunit Activation Promotes Cortical Interneuron Migration

(2013) Ariel Avila et al.   Cell Reports

Differential Cortical c-Fos and Zif-268 Expression after Object and Spatial Memory Processing in a Standard or Episodic-Like Object Recognition Task

(2013) Flávio Freitas Barbosa et al.   Frontiers in Behavioral Neuroscience

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibition of Dopamine Transporter Activity Impairs Synaptic Depression in Rat Prefrontal Cortex Through Over-Stimulation of D1 Receptors

(2012) Jing Bai et al.   CEREBRAL CORTEX

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

What pharmacological interventions indicate concerning the role of the perirhinal cortex in recognition memory

(2012) M.W. Brown et al.   NEUROPSYCHOLOGIA

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Fragile X Syndrome: The GABAergic System and Circuit Dysfunction

(2011) Scott M. Paluszkiewicz et al.   DEVELOPMENTAL NEUROSCIENCE

GABAergic Precursor Transplantation into the Prefrontal Cortex Prevents Phencyclidine-Induced Cognitive Deficits

(2011) D. H. Tanaka et al.   JOURNAL OF NEUROSCIENCE

A Cation-  Interaction at a Phenylalanine Residue in the Glycine Receptor Binding Site Is Conserved for Different Agonists

(2011) S. A. Pless et al.   MOLECULAR PHARMACOLOGY

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder

(2010) John LR Rubenstein   CURRENT OPINION IN NEUROLOGY

Glycine Release from Radial Cells Modulates the Spontaneous Activity and Its Propagation during Early Spinal Cord Development

(2010) A.-L. Scain et al.   JOURNAL OF NEUROSCIENCE

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

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Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

(2010) Hsiao-Tuan Chao et al.   NATURE

Distinct patterns of Fos immunoreactivity in striatum and hippocampus induced by different kinds of novelty in mice

(2010) A. Rinaldi et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Disruption of an intersubunit electrostatic bond is a critical step in glycine receptor activation

(2010) Jelena Todorovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In the swim of things: recent insights to neurogenetic disorders from zebrafish

(2010) Edor Kabashi et al.   TRENDS IN GENETICS

Recessive hyperekplexia mutations of the glycine receptor α1 subunit affect cell surface integration and stability

(2009) Carmen Villmann et al.   JOURNAL OF NEUROCHEMISTRY

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

(2009) Nadine Gogolla et al.   Journal of Neurodevelopmental Disorders

KCC2 Expression Promotes the Termination of Cortical Interneuron Migration in a Voltage-Sensitive Calcium-Dependent Manner

(2009) Dante Bortone et al.   NEURON

Findings from animals concerning when interactions between perirhinal cortex, hippocampus and medial prefrontal cortex are necessary for recognition memory

(2009) E. Clea Warburton et al.   NEUROPSYCHOLOGIA

Neuroimaging of the functional and structural networks underlying visuospatial vs. linguistic reasoning in high-functioning autism

(2009) Chérif P. Sahyoun et al.   NEUROPSYCHOLOGIA

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Native glycine receptor subtypes and their physiological roles

(2008) Joseph W. Lynch   NEUROPHARMACOLOGY