New innovations: Therapeutic opportunities for intellectual disabilities

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

(2015) LUIS SALVADOR CARULLA et al.   World Psychiatry

Mutations and Deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR Cascades

(2015) James Andrew McCubrey et al.   Oncotarget

Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

(2013) Roberto Cerone et al.   ADVANCES IN THERAPY

The Potential of HDAC Inhibitors as Cognitive Enhancers

(2013) Johannes Gräff et al.   Annual Review of Pharmacology and Toxicology

A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

(2013) Mary Jacena S. Leigh et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Pitfalls and fallacies interfering with correct identification of embryonic stem cells implanted into the brain after experimental traumatic injury

(2013) Marek Molcanyi et al.   JOURNAL OF NEUROSCIENCE METHODS

A novelSOS1mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways

(2013) Munkhtuya Tumurkhuu et al.   JOURNAL OF RECEPTORS AND SIGNAL TRANSDUCTION

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Intranasal Mesenchymal Stem Cell Treatment for Neonatal Brain Damage: Long-Term Cognitive and Sensorimotor Improvement

(2013) Vanessa Donega et al.   PLoS One

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

(2012) Linh Duong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

(2012) Gail A. Spiridigliozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Experts Urge Caution Over Unregulated Stem Cell Therapies

(2012) Kathlyn Stone   ANNALS OF NEUROLOGY

Mesenchymal stem cells restore cortical rewiring after neonatal ischemia in mice

(2012) Cindy T. J. van Velthoven et al.   ANNALS OF NEUROLOGY

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

(2012) Nicole E. Buck et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

(2012) C. Andreadi et al.   GENES & DEVELOPMENT

Activation of the stress proteome as a mechanism for small molecule therapeutics

(2012) Rebecca Deering Brose et al.   HUMAN MOLECULAR GENETICS

Lithium rescues synaptic plasticity and memory in Down syndrome mice

(2012) Andrea Contestabile et al.   JOURNAL OF CLINICAL INVESTIGATION

A Critical and Cell-Autonomous Role for MeCP2 in Synaptic Scaling Up

(2012) M. P. Blackman et al.   JOURNAL OF NEUROSCIENCE

Evidence for a Fragile X Mental Retardation Protein-Mediated Translational Switch in Metabotropic Glutamate Receptor-Triggered Arc Translation and Long-Term Depression

(2012) F. Niere et al.   JOURNAL OF NEUROSCIENCE

Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome

(2012) Julie B. Eisengart et al.   JOURNAL OF PEDIATRICS

Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation

(2012) Tao Xie et al.   MOVEMENT DISORDERS

Adaptive Resonance Theory: How a brain learns to consciously attend, learn, and recognize a changing world

(2012) Stephen Grossberg   NEURAL NETWORKS

MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction

(2012) Bin Xu et al.   NEUROBIOLOGY OF DISEASE

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

(2012) B. J. Ebbink et al.   NEUROLOGY

Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X

(2012) L. Abrams et al.   PEDIATRICS

The Interaction between Early Life Epilepsy and Autistic-Like Behavioral Consequences: A Role for the Mammalian Target of Rapamycin (mTOR) Pathway

(2012) Delia M. Talos et al.   PLoS One

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

Severe Maternal Hypothyroidism Corrected Prior to the Third Trimester Is Associated with Normal Cognitive Outcome in the Offspring

(2012) Susan Downing et al.   THYROID

Contributions of the striatum to learning, motivation, and performance: an associative account

(2012) Mimi Liljeholm et al.   TRENDS IN COGNITIVE SCIENCES

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

From Abnormal Hippocampal Synaptic Plasticity in Down Syndrome Mouse Models to Cognitive Disability in Down Syndrome

(2012) Nathan Cramer et al.   NEURAL PLASTICITY

Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial

(2012) R Boada et al.   Translational Psychiatry

MeCP2: structure and functionThis paper is one of a selection of papers published in a Special Issue entitled 31st Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

(2011) Nicholas L. Adkins et al.   Biochemistry and Cell Biology

Molecular Genetics of Neuronal Migration Disorders

(2011) Judy S. Liu   Current Neurology and Neuroscience Reports

Synapse development in health and disease

(2011) Jan Elizabeth Melom et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Clinical trials of intranasal delivery for treating neurological disorders – a critical review

(2011) Xinfeng Liu   Expert Opinion on Drug Delivery

Intranasal delivery of therapeutic proteins for neurological diseases

(2011) Francesca Malerba et al.   Expert Opinion on Drug Delivery

Pallidal Deep-Brain Stimulation Associated With Complete Remission of Self-injurious Behaviors in a Patient With Lesch-Nyhan Syndrome

(2011) Laura L. Deon et al.   JOURNAL OF CHILD NEUROLOGY

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC

(2011) Eva Thimm et al.   JOURNAL OF INHERITED METABOLIC DISEASE

HDAC inhibition modulates hippocampus-dependent long-term memory for object location in a CBP-dependent manner

(2011) J. Haettig et al.   LEARNING & MEMORY

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

(2011) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

Increased efficiency of the GABAA and GABAB receptor-mediated neurotransmission in the Ts65Dn mouse model of Down syndrome

(2011) Alexander M. Kleschevnikov et al.   NEUROBIOLOGY OF DISEASE

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

(2011) Martin Lindner et al.   Orphanet Journal of Rare Diseases

The Cell Biology of Synaptic Plasticity

(2011) V. M. Ho et al.   SCIENCE

Carbon Monoxide–Activated Nrf2 Pathway Leads to Protection Against Permanent Focal Cerebral Ischemia

(2011) Bing Wang et al.   STROKE

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Enhanced human brain associative plasticity in Costello syndrome

(2010) M. Dileone et al.   JOURNAL OF PHYSIOLOGY-LONDON

Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132

(2010) Dieter Edbauer et al.   NEURON

IGF-1 derived small neuropeptides and analogues: a novel strategy for the development of pharmaceuticals for neurological conditions

(2009) Jian Guan et al.   BRITISH JOURNAL OF PHARMACOLOGY

Chromosome 21-derived MicroRNAs Provide an Etiological Basis for Aberrant Protein Expression in Human Down Syndrome Brains

(2009) Donald E. Kuhn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors

(2009) E. Martín-Hernández et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

NNZ-2566 treatment inhibits neuroinflammation and pro-inflammatory cytokine expression induced by experimental penetrating ballistic-like brain injury in rats

(2009) Hans H Wei et al.   Journal of Neuroinflammation

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

(2009) E. Denayer et al.   JOURNAL OF NEUROSCIENCE

Intellectual, Adaptive, and Behavioral Functioning in Children With Urea Cycle Disorders

(2009) Lauren Krivitzky et al.   PEDIATRIC RESEARCH

Spikes, synchrony, and attentive learning by laminar thalamocortical circuits

(2008) Stephen Grossberg et al.   BRAIN RESEARCH

Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome

(2008) Pamela Joy et al.   CHILD NEUROPSYCHOLOGY

MeCP2-dependent repression of an imprinted miR-184 released by depolarization

(2008) Tasuku Nomura et al.   HUMAN MOLECULAR GENETICS

Phosphatase and tensin homologue deleted on chromosome 10: Extending its PTENtacles

(2008) Bangyan L. Stiles   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY