Journal ArticleDOI
Syndromic Autism Revisited: Review of the Literature and Lessons Learned.
TLDR
It is shown that the study of syndromic autism provides insight into the phenotypic and molecular heterogeneity of neurodevelopmental disease and suggests how study of these disorders can be helpful in understanding disease mechanisms implicated in nonsyndromic Autism.About:
This article is published in Pediatric Neurology.The article was published on 2021-01-01. It has received 18 citations till now. The article focuses on the topics: Autism & Autism spectrum disorder.read more
Citations
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Journal ArticleDOI
Molecular Dysregulation in Autism Spectrum Disorder
Pritmohinder S. Gill,Jeffery L Clothier,Aravindhan Veerapandiyan,Harsh Dweep,Patricia Porter-Gill,G. Bradley Schaefer,G. Bradley Schaefer +6 more
TL;DR: In this paper, the authors explored the contribution of current innovative molecular strategies to understand etiology of ASD, which are focused on whole exome sequencing (WES), whole genome sequencing(WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models.
Journal ArticleDOI
Role of tRNA-Derived Fragments in Neurological Disorders: a Review
Journal ArticleDOI
mTOR-Dependent Spine Dynamics in Autism
TL;DR: It is shown here that the direction of change in spine density was mostly correlated to the upstream positive or negative regulation of the mTOR pathway and most rodent models of mutant mTOR regulators show increases in immature spines, based on morphological analyses.
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Common and Distinct Disruptions of Cortical Surface Morphology Between Autism Spectrum Disorder Children With and Without SHANK3 Deficiency.
Dongyun Li,Chunxue Liu,Ziyi Huang,Ziyi Huang,Huiping Li,Qiong Xu,Bingrui Zhou,Chunchun Hu,Ying Zhang,Yi Wang,Jingxin Nie,Zhongwei Qiao,Dazhi Yin,Xiu Xu +13 more
TL;DR: Zhang et al. as discussed by the authors combined genetic tests, neurobehavioral evaluations, and magnetic resonance imaging, aiming to explore the disruptions of both local and networked cortical structural organization in ASD children with and without SHANK3 deficiency.
References
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Journal ArticleDOI
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
TL;DR: An exhaustive review of the clinical genetics and research genetics literature in an attempt to collate all genes and recurrent genomic imbalances that have been implicated in the etiology of ASD shows that autism is not a single clinical entity but a behavioral manifestation of tens or perhaps hundreds of genetic and genomic disorders.
Journal ArticleDOI
Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
Huda Y. Zoghbi,Mark F. Bear +1 more
TL;DR: Top-down approaches using human phenotypes and genetics and bottom-up approaches applying molecular, biochemical, and neurophysiological studies to genetic models of these disorders revealed unsuspected pathogenic mechanisms and identified potential therapeutic targets.