Results 181 to 190 of about 24,165 (274)
Movement Disorders, EarlyView.Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer +24 more
wiley +1 more source
The Broader Autism Phenotype in Mothers is Associated with Increased Discordance Between Maternal-Reported and Clinician-Observed Instruments that Measure Child Autism Spectrum Disorder. [PDF]
J Autism Dev Disord, 2017 Rubenstein E +10 more
europepmc +1 more source
Microbiota Medicine Research, EarlyView.ABSTRACT The growing recognition of the microbiome's role in human health has propelled the emergence of microbiota medicine—a new discipline integrating microbiology, multi‐omics, and clinical science. Advances in sequencing, data integration, and interventions such as fecal microbiota transplantation (FMT) have transitioned the field from ...
Min Dai +6 more
wiley +1 more source
Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age. [PDF]
Autism Res Treat, 2016 Tsang T, Gillespie-Lynch K, Hutman T.
europepmc +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)
Phytotherapy Research, EarlyView.The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo +11 more
wiley +1 more source
The oscillatory response of the electroretinogram and neuronal adaptation
Acta Ophthalmologica, EarlyView.Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim This systematic review explored associations between brain structural volumes and behavioural outcomes in children born preterm up to 32 weeks of gestation. Methods PubMed, PsycINFO, Scopus and Web of Science were searched for papers published in English from 1 January 2013 to 7 November 2023.
Yolanda Marín Almagro +5 more
wiley +1 more source
The emergence of network inefficiencies in infants with autism spectrum disorder [PDF]
, 2017 Botteron, Kelly N +3 more
core +1 more source
Identifying Neurobiological Markers of the Broader Autism Phenotype [PDF]
, 2015 Valerie Yap +2 more
openaire +1 more source