Results 51 to 60 of about 128,632 (290)

Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study

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, Wei‐jun Chen, Dan Yao, Lin Xu, Ji‐yang Shen, Yan Zeng, Zhuo Shi, Xiao‐wei Ye, Dao‐huan Kang, Bin Xu, Jie Shao, Chai Ji   +11 more
doaj   +1 more source

Atypical Amygdala–Neocortex Interaction During Dynamic Facial Expression Processing in Autism Spectrum Disorder

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, Takanori Kochiyama, Shota Uono, Sayaka Yoshimura, Yasutaka Kubota, Reiko Sawada, Reiko Sawada, Morimitsu Sakihama, Motomi Toichi, Motomi Toichi   +9 more
doaj   +1 more source

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, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Antisocial Personality as a Neurodevelopmental Disorder

, 2018
Although antisocial personality disorder (APD) is one of the most researched personality disorders, it is still surprisingly resistant to treatment.
Adrian Raine
core   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

How effective is family counselling on screen exposure of pre-school children?

The Turkish Journal of Pediatrics, 2021
Background. Excessive screen viewing and background TV exposure are common problems all over the world. Therefore, intervention studies have gained importance.
Evin İlter Bahadur, Pınar Zengin Akkuş, Tuba Çelen Yoldaş, Elif Nursel Özmert   +3 more
doaj   +1 more source

Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review [PDF]

, 2022
Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized.
van Eeghen, Agnies M., Annelieke R. Müller, de Koning, Tom J., von Scheibler, E.N.M.M., Zinkstok, J.R., Zinkstok, Janneke R., van Amelsvoort, Thérèse A. M. J., Mark L. Kuijf, van Amelsvoort, T.A.M.J., Boot, E., Thérèse A.M.J. van Amelsvoort, Kuijf, Mark L., van Eeghen, A.M., Kuijf, M.L., Emma N.M.M. von Scheibler, Agnies M. van Eeghen, de Koning, T.J., Müller, Annelieke R., van Amelsvoort, Thérèse A.M.J., Muller, A.R., Janneke R. Zinkstok, von Scheibler, Emma N. M. M., Boot, Erik, Erik Boot, von Scheibler, Emma N.M.M., Tom J. de Koning   +25 more
core   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

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

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 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, Emmanuelle Deniau, Marianna Giannitelli, Jean Xavier, Andreas Hartmann, David Cohen   +5 more
doaj   +1 more source