Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism. [PDF]
, 2019 BackgroundAutism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS.
Bishop, Somer L +2 more
core +1 more source
A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. [PDF]
, 2020 BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites.
Hyde, Carly +6 more
core +1 more source
Gyrification brain abnormalities as predictors of outcome in anorexia nervosa. [PDF]
, 2015 Gyrification brain abnormalities are considered a marker of early deviations from normal developmental trajectories and a putative predictor of poor outcome in psychiatric disorders.
Daniela, Degortes +4 more
core +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder [PDF]
, 2022 Beatriz Baladrón +21 more
openalex +1 more source
Morbidity and Mortality ofVery Low Birth Weight Infant Graduates of a Level Three Neonatal Intensive Care Unit [PDF]
, 2007 Purpose: To describe the morbidity and mortality of very low birth weight (VLBW) infant graduates of a level three neonatal intensive care unit (NICU) in a medically underserved population.
Cortes, Maria
core +1 more source
Modeling the functional genomics of autism using human neurons. [PDF]
, 2012 Human neural progenitors from a variety of sources present new opportunities to model aspects of human neuropsychiatric disease in vitro. Such in vitro models provide the advantages of a human genetic background combined with rapid and easy manipulation,
Chen, L +10 more
core +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family
Scientific Reports, 2017 The emergence of genes implicated across multiple comorbid neurologic disorders allows to identify shared underlying molecular pathways. Recently, investigation of patients with diverse neurologic disorders found TANC1 and TANC2 as possible candidate ...
Alessandra Gasparini +3 more
doaj +1 more source