Spinal muscular atrophy: an evolving scenario through new perspectives in diagnosis and advances in therapies
I Angilletta, R Ferrante, R Giansante… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease
characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most …
characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most …
Caregiver burden of spinal muscular atrophy: a systematic review
E Landfeldt, S Abner, A Pechmann, T Sejersen… - …, 2023 - Springer
Objective The objective of our study was to review, synthesize, and grade published
evidence of caregiver burden of spinal muscular atrophy (SMA), a rare autosomal-recessive …
evidence of caregiver burden of spinal muscular atrophy (SMA), a rare autosomal-recessive …
Effects of a neuropsychosocial teleassistance intervention on social cognition and health-related quality of life of pediatric patients with neuromuscular diseases
I García, O Martínez, I Amayra… - Journal of Pediatric …, 2024 - academic.oup.com
Objective This study aimed to determine the effects of a neuropsychosocial teleassistance
group-based intervention on improving social cognitive functioning and health-related …
group-based intervention on improving social cognitive functioning and health-related …
Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment
Y Hu, L Wei, A Li, T Liu, Y Jiang, C Xie… - Frontiers in …, 2023 - frontiersin.org
Objective Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by
the degeneration of motor neurons in the spinal cord. It remains uncertain whether the …
the degeneration of motor neurons in the spinal cord. It remains uncertain whether the …
Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study
Introduction Older children and adults with spinal muscular atrophy (SMA) have been shown
to have more anxiety, depression, and other behavioral problems in a few studies. But no …
to have more anxiety, depression, and other behavioral problems in a few studies. But no …
Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy
N Delestrée, E Semizoglou, JG Pagiazitis, A Vukojicic… - Brain, 2023 - academic.oup.com
Neuromodulation by serotonin regulates the activity of neuronal networks responsible for a
wide variety of essential behaviours. Serotonin (or 5-HT) typically activates metabotropic G …
wide variety of essential behaviours. Serotonin (or 5-HT) typically activates metabotropic G …
The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study
KM Alotaibi, M Alsuhaibani, KS Al-Essa… - Frontiers in Public …, 2024 - frontiersin.org
Background Spinal muscular atrophy (SMA) is a rare debilitating condition with a significant
burden for patients and society. However, little is known about how it affects Saudi Arabia's …
burden for patients and society. However, little is known about how it affects Saudi Arabia's …
Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany
E Landfeldt, B Leibrock, J Hussong, S Thiele… - Quality of Life …, 2024 - Springer
Purpose Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease
characterized by progressive muscular atrophy and weakness resulting in substantial …
characterized by progressive muscular atrophy and weakness resulting in substantial …
[HTML][HTML] Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current …
G Accogli, C Ferrante, I Fanizza, MC Oliva, I Gallo… - Acta …, 2022 - ncbi.nlm.nih.gov
Objective Standards of care and new genetic and molecular therapies have contributed to
increasing life expectancy of patients with neuromuscular diseases (NMDs). This review …
increasing life expectancy of patients with neuromuscular diseases (NMDs). This review …
[HTML][HTML] Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study
L Du, H Dong, C Miao, F Jia, L Shan - Translational Pediatrics, 2022 - ncbi.nlm.nih.gov
Background Spinal muscular atrophy (SMA) is a hereditary disorder characterized by
progressive muscle weakness and atrophy in children. However, less attention is paid to …
progressive muscle weakness and atrophy in children. However, less attention is paid to …