Molecular Autism
Papers 520
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#1Sara B. Linker (Salk Institute for Biological Studies)H-Index: 9
#2Ana P.D. Mendes (Salk Institute for Biological Studies)H-Index: 4
Last. Maria Carolina Marchetto (UCSD: University of California, San Diego)
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BACKGROUND Research evidence accumulated in the past years in both rodent and human models for autism spectrum disorders (ASD) have established insulin-like growth factor 1 (IGF-1) as one of the most promising ASD therapeutic interventions to date. ASD is phenotypically and etiologically heterogeneous, making it challenging to uncover the underlying genetic and cellular pathophysiology of the condition; and to efficiently design drugs with widespread clinical benefits. While IGF-1 effects have b...
#1Axel Krug (University of Bonn)H-Index: 23
#2Markus Wöhr (University of Southern Denmark)
Last. Stephanie H. Witt (Heidelberg University)H-Index: 46
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Advanced paternal age (APA) is a risk factor for several neurodevelopmental disorders, including autism and schizophrenia. The potential mechanisms conferring this risk are poorly understood. Here, we show that the personality traits schizotypy and neuroticism correlated with paternal age in healthy subjects (N = 677). Paternal age was further positively associated with gray matter volume (VBM, N = 342) in the right prefrontal and the right medial temporal cortex. The integrity of fiber tracts (...
#1Shreya Das SharmaH-Index: 1
#2Rakhi PalH-Index: 2
Last. Matthew R. Livesey (Edin.: University of Edinburgh)H-Index: 15
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BACKGROUND Fragile X syndrome (FXS), a neurodevelopmental disorder, is a leading monogenetic cause of intellectual disability and autism spectrum disorder. Notwithstanding the extensive studies using rodent and other pre-clinical models of FXS, which have provided detailed mechanistic insights into the pathophysiology of this disorder, it is only relatively recently that human stem cell-derived neurons have been employed as a model system to further our understanding of the pathophysiological ev...
#1Michael S. BreenH-Index: 11
#2Andrew W. Browne (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 8
Last. Elodie Drapeau (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 21
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Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from SHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions. We developed ...
1 CitationsSource
#1Lisa D. Yankowitz (UPenn: University of Pennsylvania)H-Index: 2
#2John D. Herrington (UPenn: University of Pennsylvania)H-Index: 21
Last. Robert T. Schultz (UPenn: University of Pennsylvania)H-Index: 60
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The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growth leading to normalized brain volume in late childhood and beyond. While there is consistent evidence for early brain overgrowth, there is mixed evidence for normalization of brain volume by middle childhood. The outcome of this debate is important to understanding the etiology and neurodev...
#1Meredith Cola (Children's Hospital of Philadelphia)H-Index: 2
#2Samantha Plate (Children's Hospital of Philadelphia)H-Index: 2
Last. Julia Parish-Morris (UPenn: University of Pennsylvania)H-Index: 9
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BACKGROUND Individuals with autism spectrum disorder (ASD) are characterized by social communication challenges and repetitive behaviors that may be quickly detected by experts (Autism Res 10:653-62, 2017; American Psychiatric Association, Diagnostic and statistical manual of mental disorders, 2013). Recent research suggests that even naive non-experts judge a variety of human dimensions using narrow windows of experience called "first impressions." Growing recognition of sex differences in a va...
#1Alejandro López-Tobón (IEO: European Institute of Oncology)H-Index: 1
#2Sebastiano Trattaro (IEO: European Institute of Oncology)H-Index: 2
Last. Giuseppe Testa (IEO: European Institute of Oncology)H-Index: 29
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Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these however, have rarely been put in context with the opposite m...
#1Patrick S. Dwyer (UC Davis: University of California, Davis)H-Index: 1
#2Xiaodong Wang (UC Davis: University of California, Davis)
Last. Susan M. Rivera (MIND Institute)H-Index: 35
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BACKGROUND Autistic individuals exhibit atypical patterns of sensory processing that are known to be related to quality of life, but which are also highly heterogeneous. Previous investigations of this heterogeneity have ordinarily used questionnaires and have rarely investigated sensory processing in typical development (TD) alongside autism spectrum development (ASD). METHODS The present study used hierarchical clustering in a large sample to identify subgroups of young autistic and typically ...
#1Lucia Janickova (University of Fribourg)
#2Karin Farah Rechberger (University of Fribourg)
Last. Beat Schwaller (University of Fribourg)H-Index: 44
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BACKGROUND In fast firing, parvalbumin (PV)-expressing (Pvalb) interneurons, PV acts as an intracellular Ca2+ signal modulator with slow-onset kinetics. In Purkinje cells of PV-/- mice, adaptive/homeostatic mechanisms lead to an increase in mitochondria, organelles equally capable of delayed Ca2+ sequestering/buffering. An inverse regulation of PV and mitochondria likewise operates in cell model systems in vitro including myotubes, epithelial cells, and oligodendrocyte-like cells overexpressing ...
#1Maria Gudbrandsen ('KCL': King's College London)H-Index: 8
#2Anke Bletsch (Goethe University Frankfurt)H-Index: 2
Last. Carrie E. Bearden (Semel Institute for Neuroscience and Human Behavior)H-Index: 61
view all 13 authors...
A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same—or distinct—neural systems that mediate these symptoms in non-deletion carriers. We examined vertex-wise estimates of cortical volume (CV),...
Top fields of study
Developmental psychology
Autism spectrum disorder