Results 131 to 140 of about 2,725,444 (278)
Developmental Medicine &Child Neurology, Volume 67, Issue 7, Page 892-900, July 2025.201 infants at risk for developmental disorders were assessed using two General Movements Assessments (GMA) and one Hammersmith Infant Neurological Examination (HINE), integrated into routine follow up care. Developmental outcome was assessed with a neurologic examination at 2 years, and the Bayley Scales of Infant and Toddler Development at 2 ‐ 3.5 ...
Gemunu Hewawitharana +12 more
wiley +1 more source
Gemin4: A Novel Component of the Smn Complex That Is Found in Both Gems and Nucleoli [PDF]
, 2000 The survival of motor neurons (SMN) protein, the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, is localized both in the cytoplasm and in discrete nuclear bodies called gems.
Charroux, Bernard +6 more
core +2 more sources
Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy [PDF]
, 1995 A. Barnicoat
openalex +1 more source
Wearable sensors in paediatric neurology
Developmental Medicine &Child Neurology, Volume 67, Issue 7, Page 834-853, July 2025.Types of signals monitored in children's natural environments using wearable sensors, and their associated applications in various paediatric neurological conditions. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16267 Abstract Wearable sensors have the potential to transform diagnosis, monitoring, and management of children ...
Camila González Barral, Laurent Servais
wiley +1 more source
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Validation of the estimated Effect of Ankle Foot Orthoses on Spinal Cord Injury Gait Using Subject-Adjusted Musculoskeletal Models [PDF]
arXivSimulation of assistive devices on pathological gait through musculoskeletal models offers the potential and advantages of estimating the effect of the device in several biomechanical variables and the device characteristics ahead of manufacturing. In this study, we introduce a novel musculoskeletal modelling approach to simulate the biomechanical ...
arxiv
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz +58 more
wiley +1 more source
JOR SPINE, Volume 8, Issue 2, June 2025.ABSTRACT Background Chronic back pain (CBP) is a major cause of disability globally. While its etiology is multifactorial, specific contributing genetic and environmental factors remain to be discovered. Paraspinal muscle fat has been shown in human and preclinical studies to be related to CBP. One potential risk factor is infection by cytomegalovirus (
Maryam Kazemi Naeini +4 more
wiley +1 more source
Journal of Neurology Neurosurgery & Psychiatry, 1987 Frank S. Walsh +2 more
semanticscholar +1 more source