Results 61 to 70 of about 1,885,121 (275)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Translational Psychiatry, 2022
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM)
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries   +34 more
doaj   +1 more source

The role of the broader autism phenotype in anxiety and depression in college-aged adults

Frontiers in Psychiatry, 2023
The current study examines the relationship between the presence of autistic traits and anxiety and mood disorders in young adults from different racial groups. A representative sample from a predominately white university (2,791 non-Hispanic White (NHW)
McKayla R. Kurtz, Rajesh K. Kana, Daphne L. Rivera, Sharlene D. Newman, Sharlene D. Newman, Sharlene D. Newman   +5 more
doaj   +1 more source

Elastomeric 3D‐Printed Microenvironments Enable Nanonewton Force Measurements in Healthy and Diseased Human Pluripotent Stem Cell‐Derived Neuroepithelial Cells

Advanced Materials, EarlyView.
We present elastomeric three‐dimensional (3D) microstructures fabricated via two‐photon polymerization (2PP) and post‐processed through wet etching, for quantifying nanonewton (nN)‐scale forces applied by healthy and diseased neural cells. The mechanically characterized free‐standing beam architectures enable measurement of traction forces of ...
Pieter F. J. van Altena, Lucia Castillo Ransanz, Ruben H. Guis, Giulia Bergamaschi, Nanne J. Paauw, Urs Staufer, Vivi M. Heine, Angelo Accardo   +7 more
wiley   +1 more source

Neuronal morphology alterations in autism and possible role of oxytocin

Endocrine Regulations, 2019
Current understanding of the neuroanatomical abnormalities in autism includes gross anatomical changes in several brain areas and microstructural alterations in neuronal cells as well.
Falougy Hisham El, Filova Barbora, Ostatnikova Daniela, Bacova Zuzana, Bakos Jan   +4 more
doaj   +1 more source

Autism Spectrum Disorder in a Patient with Bipolar Disorder and Its Relationship with Catatonia Spectrum: A Case Study

Brain Sciences, 2023
According to several studies, the prevalence of Autism Spectrum Disorder (ASD) ranges from 2.4 to 9.9 percent among adult mental inpatients. However, subjects with forms of ASD that fit in the high functioning spectrum may remain undiagnosed during ...
Liliana Dell’Osso, Chiara Bonelli, Benedetta Nardi, Giulia Amatori, Ivan Mirko Cremone, Barbara Carpita   +5 more
doaj   +1 more source

Are autistic traits measured equivalently in individuals with and without an Autism Spectrum Disorder?:An invariance analysis of the Autism Spectrum Quotient Short Form [PDF]

, 2014
It is common to administer measures of autistic traits to those without autism spectrum disorders (ASDs) with, for example, the aim of understanding autistic personality characteristics in non-autistic individuals. Little research has examined the extent
Booth, Thomas, Kuenssberg, Renate, Murray, Aja Louise, Murray, Aja; id_orcid, McKenzie, Karen, Booth, Tom, O’Donnell, Michael   +6 more
core   +1 more source

Targeted Restoration of the Microbial Tryptophan Oxidative Pathway Ameliorates Autism‐Like Behavioral and Synaptic Deficits

Advanced Science, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is associated with gut microbiota dysbiosis, yet the contribution of specific microbial metabolic pathways remains unclear. Reanalysis of a public ASD cohort revealed reduced functional potential in microbial tryptophan oxidative metabolism.
Rui Guo, Caian He, Xiao Xiao, Jingmeng Li, Zilong Zhang, Ying He, Chuanchuan Wang, Jiale Zhao, Jun Gong, Jiarui Liang, Tian Yuan, Haiting Sun, Xuebo Liu, Chao Gao, Zhigang Liu   +14 more
wiley   +1 more source

Gut‐Liver Translocation of Bacteroides Uniformis Alleviates Advanced Metabolic Dysfunction‐Associated Steatotic Liver Disease by Suppressing Hepatocyte Ferroptosis via Propionic Acid Secretion

Advanced Science, EarlyView.
Systematic characterization of the liver‐resident microbiota in advanced metabolic dysfunction‐associated steatotic liver disease (MASLD) reveals a consistent depletion of Bacteroides uniformis (B. uniformis) in both hepatic and gut microbial communities. Oral gavage of B.
Haiyang Liu, Zun Fan, Zhen Liu, Lei Qin, Xin Zhao   +4 more
wiley   +1 more source