Results 141 to 150 of about 181,231 (346)

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals 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

SCREENING PROTOCOL FOR SIGNS OF AUTISTIC SPECTRUM DISORDER FOR BABIES

open access: gold, 2020
SARAH Network of Neurorehabilitation (Brazil)   +3 more
openalex   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

open access: yesAnnals 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

Photocaged Oxytocin and Vasopressin Probes to Decipher Neuropeptide Signalling With High Spatiotemporal Resolution

open access: yesAngewandte 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

SOCIAL-PRAGMATIC COMMUNICATION IN WOMEN WITH AUTISM SPECTRUM DISORDER: A MULTIPLE CASE STUDY [PDF]

open access: yes, 2017
Autism spectrum disorder (ASD) is identified much later and less often in females than in males. Some researchers suspect that a different set of characteristics of ASD in females may not be consistent with the more established and widely recognized ...
Ryder, Lacey W
core   +1 more source

Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People

open access: yesAutism 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

Labor Epidural Analgesia and Autism Spectrum Disorder in Offspring: A Population‐Based Case–Control Study

open access: yesAutism 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

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