Therapeutic approaches for shankopathies

The autism spectrum: definitions, assessment and diagnoses

(2014) Catherine Lord et al.   BRITISH JOURNAL OF HOSPITAL MEDICINE

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism

(2012) Jason J. Wolff et al.   AMERICAN JOURNAL OF PSYCHIATRY

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mining and modeling human genetics for autism therapeutics

(2012) Daniel G Smith et al.   CURRENT OPINION IN NEUROBIOLOGY

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

(2012) Luigi Boccuto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

(2012) Songtao Li et al.   FASEB JOURNAL

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach

(2012) Stelios Georgiades et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism

(2012) Geraldine Dawson et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

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

(2012) Sung Han et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

(2012) Aditi Bhattacharya et al.   NEURON

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

Pharmacologic Treatment of Repetitive Behaviors in Autism Spectrum Disorders: Evidence of Publication Bias

(2012) M. Carrasco et al.   PEDIATRICS

A Systematic Review of Vocational Interventions for Young Adults With Autism Spectrum Disorders

(2012) J. L. Taylor et al.   PEDIATRICS

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen

(2012) C. Henderson et al.   Science Translational Medicine

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

(2012) J. L. Silverman et al.   Science Translational Medicine

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

(2012) E. M. Berry-Kravis et al.   Science Translational Medicine

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RETRACTED: Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism

(2011) M Ali Bangash et al.   CELL

Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met

(2011) Gordon MG Shepherd et al.   CURRENT OPINION IN NEUROBIOLOGY

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

(2011) Bredford Kerr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The development of flexible lentiviral vectors for gene transfer in the CNS

(2011) Fredric P. Manfredsson et al.   EXPERIMENTAL NEUROLOGY

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

(2011) Simone Berkel et al.   HUMAN MOLECULAR GENETICS

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses

(2011) Chiara Verpelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aripiprazole in the Treatment of Irritability in Pediatric Patients (Aged 6–17 Years) with Autistic Disorder: Results from a 52-Week, Open-Label Study

(2011) Ronald N. Marcus et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

Safety and Tolerability of Aripiprazole for Irritability in Pediatric Patients With Autistic Disorder

(2011) Ronald N. Marcus et al.   JOURNAL OF CLINICAL PSYCHIATRY

Repetitive Transcranial Magnetic Stimulation (rTMS)

(2011) Mustafa M. Husain et al.   JOURNAL OF ECT

Repetitive transcranial magnetic stimulator with controllable pulse parameters

(2011) Angel V Peterchev et al.   Journal of Neural Engineering

Long-Term Effects of Repetitive Transcranial Magnetic Stimulation on Markers for Neuroplasticity: Differential Outcomes in Anesthetized and Awake Animals

(2011) R. Gersner et al.   JOURNAL OF NEUROSCIENCE

Modulation of cortical inhibition by rTMS - findings obtained from animal models

(2011) Klaus Funke et al.   JOURNAL OF PHYSIOLOGY-LONDON

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

(2011) Hsien-Sung Huang et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

A Systematic Review of Medical Treatments for Children With Autism Spectrum Disorders

(2011) M. L. McPheeters et al.   PEDIATRICS

A Systematic Review of Early Intensive Intervention for Autism Spectrum Disorders

(2011) Z. Warren et al.   PEDIATRICS

Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior

(2011) Markus Wöhr et al.   PLoS One

Adeno-Associated Virus-Mediated Rescue of the Cognitive Defects in a Mouse Model for Angelman Syndrome

(2011) Jennifer L. Daily et al.   PLoS One

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

(2011) Chikako Waga et al.   PSYCHIATRIC GENETICS

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies

(2011) Andreas M. Grabrucker et al.   TRENDS IN CELL BIOLOGY

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

Autism: A “Critical Period” Disorder?

(2011) Jocelyn J. LeBlanc et al.   NEURAL PLASTICITY

Behavioral Treatments in Autism Spectrum Disorder: What Do We Know?

(2010) Laurie A. Vismara et al.   Annual Review of Clinical Psychology

Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome

(2010) Dilja D. Krueger et al.   Annual Review of Medicine

Early Life Programming and Neurodevelopmental Disorders

(2010) Tracy L. Bale et al.   BIOLOGICAL PSYCHIATRY

Sociability and motor functions in Shank1 mutant mice

(2010) Jill L. Silverman et al.   BRAIN RESEARCH

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

(2010) Catalina Betancur   BRAIN RESEARCH

New directions in behavioral treatment of autism spectrum disorders

(2010) Connie Kasari et al.   CURRENT OPINION IN NEUROLOGY

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

(2010) John LR Rubenstein   CURRENT OPINION IN NEUROLOGY

A preliminary transcranial magnetic stimulation study of cortical inhibition and excitability in high-functioning autism and Asperger disorder

(2010) PETER G ENTICOTT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Management of Symptoms in Children With Autism Spectrum Disorders: A Comprehensive Review of Pharmacologic and Complementary-Alternative Medicine Treatments

(2010) Lynne C. Huffman et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Conserved role of intragenic DNA methylation in regulating alternative promoters

(2010) Alika K. Maunakea et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette Syndrome

(2010) Matthew W. State   NEURON

Mechanism-based approaches to treating fragile X

(2010) Gül Dölen et al.   PHARMACOLOGY & THERAPEUTICS

Degradation of Postsynaptic Scaffold GKAP and Regulation of Dendritic Spine Morphology by the TRIM3 Ubiquitin Ligase in Rat Hippocampal Neurons

(2010) Albert Y. Hung et al.   PLoS One

AAV Vector-Mediated Overexpression of CB1 Cannabinoid Receptor in Pyramidal Neurons of the Hippocampus Protects against Seizure-Induced Excitoxicity

(2010) Stephan Guggenhuber et al.   PLoS One

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Modulation of cortical excitability induced by repetitive transcranial magnetic stimulation: Influence of timing and geometrical parameters and underlying mechanisms

(2010) Gaby S. Pell et al.   PROGRESS IN NEUROBIOLOGY

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

Physiology of repetitive transcranial magnetic stimulation of the human brain

(2009) Janna Marie Hoogendam et al.   Brain Stimulation

Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research

(2009) Simone Rossi et al.   CLINICAL NEUROPHYSIOLOGY

Autism and autism spectrum disorders: diagnostic issues for the coming decade

(2009) Fred R. Volkmar et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

(2009) L. Zwaigenbaum et al.   PEDIATRICS

Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model

(2009) G. Dawson et al.   PEDIATRICS

Spine microdomains for postsynaptic signaling and plasticity

(2009) Thomas M. Newpher et al.   TRENDS IN CELL BIOLOGY

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

Autism: Many Genes, Common Pathways?

(2008) Daniel H. Geschwind   CELL

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy

(2008) Baodong Sun et al.   MOLECULAR THERAPY

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

(2008) A. Philippe et al.   PEDIATRICS

The effects of low- and high-frequency repetitive TMS on the input/output properties of the human corticospinal pathway

(2008) E. Houdayer et al.   EXPERIMENTAL BRAIN RESEARCH

High- and low-frequency repetitive transcranial magnetic stimulation differentially activates c-Fos and zif268 protein expression in the rat brain

(2008) Selcen Aydin-Abidin et al.   EXPERIMENTAL BRAIN RESEARCH