SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong +7 more
wiley +1 more source
Exploring the Impact of Multimodal Training on Sensory, Motor and Cognitive Function Among Children with Attention Deficit Hyperactivity Disorder: A FOCUS Protocol of Randomised Controlled Trial. [PDF]
Sharma N, Chahal A.
europepmc +1 more source
Technoference: Parent Distraction With Technology and Associations With Child Behavior Problems.
Brandon T. McDaniel, Jenny S. Radesky
semanticscholar +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Mapping ActEarly: Using a child health map to evaluate a City Collaboratory programme on early promotion of good health and wellbeing. [PDF]
Gansallo P +6 more
europepmc +1 more source
Organizational Culture and Child-Friendly Schools: Insights for Early Childhood Education [PDF]
Eko Supriyono +4 more
openalex +1 more source
ABSTRACT Aims This study aimed to explore the relationship between stress‐induced hyperglycemia (SIH) and in‐hospital medical complications in patients with acute stroke. Methods We enrolled 865,765 patients with acute stroke from the Chinese Stroke Center Alliance cohort.
Xintong Song +6 more
wiley +1 more source
Testing the Risk of Child Hyperactivity-Inattention Problems in Families Living with Housing-cost Burden during the COVID-19 Pandemic. [PDF]
Chen JH +4 more
europepmc +1 more source

