Results 201 to 210 of about 19,233 (265)

Shared genetic and molecular architecture between neurodevelopmental disorders and type 1 diabetes

Journal of Intelligent Medicine, EarlyView.
Abstract Epidemiological and clinical studies have suggested possible associations between type 1 diabetes (T1D) and neurodevelopmental disorders (NDDs), but these relationships remain inconsistent across disorders and populations. To clarify whether such mixed findings, we investigated the genetic architecture linking T1D with autism spectrum disorder
Jingxuan Zhang, Zhentao Zhou, Lirong Zhu, Wei Liu   +3 more
wiley   +1 more source

The Role of HUWE1 on Mouse Neural Cell Proliferation and Zebrafish Neurodevelopment

Medicine Bulletin, EarlyView.
ABSTRACT The HECT, UBA, and WWE domain‐containing E3 ubiquitin protein ligase 1 (HUWE1) gene is located on the X chromosome and has been implicated in neurodevelopmental disorders. However, the mechanisms by which HUWE1 dosage affects nervous system development remain poorly understood. In this study, we demonstrate that HUWE1 overexpression suppresses
Haojuan Wu, Gan Shen, Xueguang Zhang, Xiang Wang, Tiechao Ruan, Chuan Jiang, Yunchuan Tian, Xinyao Tang, Jun Ma, Wenming Xu, Ying Shen   +10 more
wiley   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders. [PDF]

Front Psychiatry
Chawner S, Chetcuti LC, Spackman EK, Uljarevic M.   +3 more
europepmc   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. [PDF]

Children (Basel)
Yaneva A, Levkova M, Stoyanova M, Hachmeriyan M, Angelova L, Pancheva R.   +5 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Editorial: Enhancing the social skills and social competence for children and adolescents with autism spectrum disorder. [PDF]

Front Psychiatry
Budisteanu M.
europepmc   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source