Results 21 to 30 of about 8,028 (167)
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms
Frontiers in Synaptic Neuroscience, 2023 The GRIN2B-related neurodevelopmental disorder is a rare disease caused by mutations in the GRIN2B gene, which encodes the GluN2B subunit of NMDA receptors.
Shasta L. Sabo +6 more
doaj +1 more source
Tourette syndrome research highlights from 2018 [version 1; peer review: 2 approved]
F1000Research, 2019 This is the fifth yearly article in the Tourette Syndrome Research Highlights series, summarizing research from 2018 relevant to Tourette syndrome and other tic disorders. The authors briefly summarize reports they consider most important or interesting.
Olivia Rose +4 more
doaj +1 more source
Frontiers in Psychology, 2022 Difficulties with executive function have often been identified in individuals with various neurodevelopmental disorders such as Autism Spectrum Disorder (ASD), Attention-Deficit Hyperactivity Disorder (ADHD), and Developmental Co-ordination Disorder ...
Chloe Southon
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Molecular Genetics & Genomic Medicine, 2022 Background Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused by microdeletions in 7q11.23. This study aims to characterize the clinical phenotypes of Chinese children with WS to help for the early diagnosis and intervention of ...
Fang‐fang Li +11 more
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Frontiers in Human Neuroscience, 2019 Atypical reciprocal social interactions involving emotional facial expressions are a core clinical feature of autism spectrum disorder (ASD). Previous functional magnetic resonance imaging (fMRI) studies have demonstrated that some social brain regions ...
Wataru Sato +9 more
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The human gut microbiome across the life course
FEBS Letters, EarlyView.Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero +4 more
wiley +1 more source
FEBS Letters, EarlyView.Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley +1 more source
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
FEBS Open Bio, EarlyView.Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Tourette syndrome and other neurodevelopmental disorders: a comprehensive review
Child and Adolescent Psychiatry and Mental Health, 2017 Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient’s quality of life.
Elena Cravedi +5 more
doaj +1 more source