Results 51 to 60 of about 19,233 (265)

Experiment 1 Stimuli (Broad Autism Phenotype Questionnaire).

, 2017
Experiment 1 Stimuli (Broad Autism Phenotype Questionnaire).
Sebastian Dern (3743494), Morton Ann Gernsbacher (343237), Jennifer L. Stevenson (393628)   +2 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Psychotic Spectrum Symptoms in Adults with Autism Spectrum Disorder and in Their First-Degree Relatives

Brain Sciences
Objectives: Autism Spectrum Disorder (ASD) and psychotic disorders have long been considered separate diagnostic entities, yet increasing evidence highlights shared neurodevelopmental mechanisms and symptom overlap.
Benedetta Nardi, Francesca Parri, Stefano Pini, Federico Giovannoni, Cristiana Pronestì, Silvia Tarantino, Gabriele Massimetti, Ivan Mirko Cremone, Liliana Dell’Osso, Barbara Carpita   +9 more
doaj   +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

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data-driven method [PDF]

, 2017
Clinical diagnosis of autism spectrum disorder (ASD) can be conceptualized as the extreme end of the distribution of subclinical autistic traits related to genetic susceptibility factors (broad autism phenotype (BAP)) in the general population ...
AYDIN, AYDAN
core   +2 more sources

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

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source