Results 21 to 30 of about 244,000 (312)

Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder

Journal of Neurodevelopmental Disorders, 2017
Background The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours.
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver   +5 more
doaj   +1 more source

Learning steers the ontogeny of an efficient hunting sequence in zebrafish larvae

eLife, 2020
Goal-directed behaviors may be poorly coordinated in young animals but, with age and experience, behavior progressively adapts to efficiently exploit the animal’s ecological niche.
Konstantinos Lagogiannis, Giovanni Diana, Martin P Meyer   +2 more
doaj   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding

Frontiers in Neuroscience, 2016
Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from > 60 y old premutation carriers, in which Zn supplementation significantly restored Zn-dependent ...
Eleonora eNapoli, Catherine eRoss-Inta, Gyu eSong, Sarah eWong, Randi eHagerman, Randi eHagerman, Louise eGane, Jennifer eSmilowitz, Flora eTassone, Flora eTassone, Cecilia eGiulivi, Cecilia eGiulivi   +11 more
doaj   +1 more source

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases

Molecular Genetics & Genomic Medicine, 2019
Background The majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism, and language deficits. IQ typically declines with age in boys with the full mutation.
Dragana Protic, Elber Y. Aydin, Flora Tassone, Maria M. Tan, Randi J. Hagerman, Andrea Schneider   +5 more
doaj   +1 more source

Natural Antioxidants: A Novel Therapeutic Approach to Autism Spectrum Disorders?

Antioxidants, 2020
Autism spectrum disorders (ASD) are a group of neurodevelopmental syndromes with both genetic and environmental origins. Several recent studies have shown that inflammation and oxidative stress may play a key role in supporting the pathogenesis and the ...
Luca Pangrazzi, Luigi Balasco, Yuri Bozzi   +2 more
doaj   +1 more source

Prematurely terminated intron-retaining mRNAs invade axons in SFPQ null-driven neurodegeneration and are a hallmark of ALS

Nature Communications, 2022
Nuclear depletion and cytoplasmic accumulation of splicing factor SFPQ are hallmarks of ALS. Here the authors demonstrate a relationship between loss of SFPQ and the emergence in neurites of intron-retaining mRNAs enriched in ALS models and tissues.
Richard Taylor, Fursham Hamid, Triona Fielding, Patricia M. Gordon, Megan Maloney, Eugene V. Makeyev, Corinne Houart   +6 more
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Disaster in pregnancy: midwifery continuity positively impacts infant neurodevelopment, QF2011 study

BMC Pregnancy and Childbirth, 2018
Background Research shows that continuity of midwifery carer in pregnancy improves maternal and neonatal outcomes. This study examines whether midwifery group practice (MGP) care during pregnancy affects infant neurodevelopment at 6-months of age ...
Gabrielle Simcock, Sue Kildea, Sue Kruske, David P. Laplante, Guillaume Elgbeili, Suzanne King   +5 more
doaj   +1 more source

Screening autism-associated environmental factors in differentiating human neural progenitors with fractional factorial design-based transcriptomics

Scientific Reports, 2023
Research continues to identify genetic variation, environmental exposures, and their mixtures underlying different diseases and conditions. There is a need for screening methods to understand the molecular outcomes of such factors. Here, we investigate a
Abishek Arora, Martin Becker, Cátia Marques, Marika Oksanen, Danyang Li, Francesca Mastropasqua, Michelle Evelyn Watts, Manish Arora, Anna Falk, Carsten Oliver Daub, Ingela Lanekoff, Kristiina Tammimies   +11 more
doaj   +1 more source