Autistic traits and proneness to shame and guilt: The mediating role of functional connectivity of cortical midline structures. [PDF]
Personal NeurosciIp IN +6 more
europepmc +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 +6 more
wiley +1 more source
Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect. [PDF]
Am J Med Genet APerreault J, Porter FD, Nowaczyk MJM.
europepmc +1 more source
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia [PDF]
, 2017 Cloninger, C. Robert +2 more
core +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 +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 +2 more
wiley +1 more source
Deep Learning Unlocks Behavioral Prediction and Neurobehavioral Decoding
Med Research, EarlyView.This review evaluates deep learning frameworks that surmount conventional limitations through high‐dimensional nonlinear modeling, spatiotemporal dependency capture, and multimodal information integration. Focusing on biological behavior forecasting and neural mechanism decoding, we delineate cutting‐edge applications, including real‐time action ...
Tianzhe Han +5 more
wiley +1 more source
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 +24 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 PsychiatryChawner S +3 more
europepmc +1 more source