Results 71 to 80 of about 1,437,159 (301)

Participation in everyday activities of children with and without neurodevelopmental disorders: a cross-sectional study in Spain [PDF]

open access: yes, 2020
[Abstract] Children with neurodevelopmental disorders (NDDs) often report significant difficulties performing activities of daily living (ADLs), which may restrict their daily participation.
Rebeca Montes-Montes   +10 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

open access: yesScientific 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

Circular RNAs arising from synaptic host genes during human neuronal differentiation are modulated by SFPQ RNA-binding protein

open access: yesBMC Biology, 2023
Background Circular RNA (circRNA) molecules, generated through non-canonical back-splicing of exon-exon junctions, have recently been implicated in diverse biological functions including transcriptional regulation and modulation of protein interactions ...
Michelle E. Watts   +5 more
doaj   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon   +9 more
wiley   +1 more source

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

open access: yesMolecular Autism, 2019
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene ...
Monica Sonzogni   +7 more
doaj   +1 more source

Disclosing the Complexities of Childhood Neurodevelopmental Disorders

open access: yes
Neurodevelopmental disorders represent an important and complex area of pediatric medicine, including a wide range of conditions affecting brain and nervous system functioning during development [...
Luigi Tarani   +3 more
core   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif   +17 more
wiley   +1 more source

Construct validity and reliability of the Dementia Test for People with Intellectual Disability: neuropsychological test battery for assessing cognitive functioning in people with intellectual disability

open access: yesBJPsych Open
Background People with an intellectual disability are vulnerable to additional disorders such as dementia. Psychometrically sound and specific instruments are needed for assessment of cognitive functioning in cases of suspected dementia.
Tanja Sappok   +5 more
doaj   +1 more source

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders [PDF]

open access: yes, 2012
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at ...
Assouline B.   +460 more
core   +1 more source

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