Results 141 to 150 of about 594,426 (300)
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?
Annals of Neurology, EarlyView.Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano +20 more
wiley +1 more source
“The big wide world of school”: Supporting children on the autism spectrum to successfully transition to primary school: Perspectives from parents and early intervention professionals [PDF]
Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2020 Nigel Chen +11 more
doaj +1 more source
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Angewandte Chemie International Edition, EarlyView.Novel and biocompatible photoactivatable oxytocin and vasopressin probes, utilising state‐of‐the‐art photocages, remain inactive in the dark. Light exposure facilitates rapid spatiotemporal receptor activation and phospholipase C (PLC)‐mediated downstream signalling. Figure created in https://BioRender.com.
Konstantin Raabe +7 more
wiley +1 more source
Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People
Autism Research, EarlyView.ABSTRACT At least one third of autistic people have limited or no speech. Most nonspeaking autistic people are never provided alternatives that would enable the full range of expression that speech allows, significantly limiting their access to educational, social, and employment opportunities.
Vikram K. Jaswal +4 more
wiley +1 more source
Autism Research, EarlyView.ABSTRACT While the immediate benefits of labor epidural analgesia (LEA) are well established, recent studies have raised concerns about possible associations with autism spectrum disorder (ASD). Therefore, we examined the association between LEA and ASD in offspring.
Taniqua T. Ingol +7 more
wiley +1 more source
Does Television Cause Autism? [PDF]
Autism is currently estimated to affect approximately one in every 166 children, yet the cause or causes of the condition are not well understood.
Michael Waldman +2 more
core
Autism Research, EarlyView.ABSTRACT There is a critical need to understand the early vocabulary of young children with autism who have limited language, defined in this study as producing fewer than 20 different spontaneous and functional spoken or augmented words, to better inform educational targets and vocabulary selection for spoken as well as augmentative and alternative ...
Eunji Kong +7 more
wiley +1 more source