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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
TLDR
It is found that repeat expansion in C9ORF72 is a major cause of both FTD and ALS, suggesting multiple disease mechanisms. Expand
An anatomically comprehensive atlas of the adult human brain transcriptome
TLDR
A transcriptional atlas of the adult human brain is described, comprising extensive histological analysis and comprehensive microarray profiling of ∼900 neuroanatomically precise subdivisions in two individuals, to form a high-resolution transcriptional baseline for neurogenetic studies of normal and abnormal human brain function. Expand
Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus
TLDR
Observations indicate that prolonged seizure discharges stimulate dentate granule cell neurogenesis, and that hippocampal network plasticity associated with epileptogenesis may arise from aberrant connections formed by newly born dentategranule cells. Expand
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
TLDR
The results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder. Expand
Advances in autism genetics: on the threshold of a new neurobiology
TLDR
Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme. Expand
Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways. Expand
Strong Association of De Novo Copy Number Mutations with Autism
TLDR
Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized. Expand
Cancerous stem cells can arise from pediatric brain tumors
TLDR
It is found that tumor-derived progenitors form neurospheres that can be passaged at clonal density and are able to self-renew, which may have important implications for treatment by means of specific targeting of stem-like cells within brain tumors. Expand
Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits
TLDR
A mouse knockout of the Cntnap2 gene is characterized, which is strongly associated with ASD and allied neurodevelopmental disorders, and treatment with the FDA-approved drug risperidone ameliorates the targeted repetitive behaviors in the mutant mice. Expand
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
TLDR
It is shown, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. Expand
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