Results 81 to 90 of about 1,722 (231)
Spinal muscular atrophy of childhood: genetics [PDF]
Developmental Medicine & Child Neurology, 1997 openaire +3 more sources
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy [PDF]
, 2020 Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 (SMN1) gene, while less than 5% of cases are attributed to genes other than SMN.
Fuller, HR, Šoltić, D
core +1 more source
Brain Pathology, EarlyView.Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper +17 more
wiley +1 more source
Motor neurone and muscle nuclear changes in development and disease [PDF]
, 1976 The primary gene defects of hereditary neuromuscular disorders have not, as yet, been determined. Research has contributed much to our understanding of many aspects of these diseases, but since this has been directed towards the secondary phenomena ...
Vassilopoulos, D.
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Human brain matters: Navigating the neuropathology of COVID‐19
Brain Pathology, EarlyView.Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To compare and examine relationships between participation, environmental factors, and quality of life (QoL) in children with cerebral palsy and physical disability (CP/PD) and typically developing children. Method Participants were 59 children (6–12 years; 31 females): 30 with CP/PD (mean age 8 years 7 months, standard deviation 1 year 6 ...
Nava Gelkop, Batya Engel‐Yeger
wiley +1 more source
Late-onset spinal motor neuronopathy- a new neuromuscular disease [PDF]
, 2015 The aim of this study was to clarify the clinical phenotype of late-onset spinal motor neuronopathy (LOSMoN), an adult-onset autosomal dominant lower motor neuron disorder identified first in two families in Eastern Finland, in order to clarify ...
Jokela, Manu
core
Developmental Medicine &Child Neurology, EarlyView.This paper evaluated the interrater reliability, concurrent validity and responsiveness of the Children's Eating and Drinking Activity Scale ‐ a measure of functional outcome for children with paediatric feeding disorder. Abstract Aim To assess the interrater reliability, concurrent validity, and responsiveness of the Children's Eating and Drinking ...
Ericka Joinelle Mantaring +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti +2 more
wiley +1 more source