, 1995 Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affect ing motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that
Nowak, Deborah
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Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families [PDF]
, 2016 Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them.
Boardman, Felicity K. +2 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Discovery of a small molecule probe that post-translationally stabilizes the survival motor neuron protein for the treatment of spinal muscular atrophy. [PDF]
, 2017 Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. We previously developed a high-throughput assay that employs an SMN2-luciferase reporter allowing identification of compounds that act transcriptionally, enhance exon recognition,
Androphy, Elliot J. +16 more
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Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
Journal of Korean medical science, 2000 Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells.
S. Shin +6 more
semanticscholar +1 more source
Engineering the Future of Restorative Clinical Peripheral Nerve Surgery
Advanced Healthcare Materials, EarlyView.What if damaged nerves could regenerate more effectively? This review unveils cutting‐edge strategies to restore nerve function, from biomaterial scaffolds and bioactive molecules to living engineered tissues. By accelerating axonal regrowth, preserving Schwann cells, and enhancing connectivity, these approaches are reshaping nerve repair—offering new ...
Justin C. Burrell +5 more
wiley +1 more source
Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA) [PDF]
, 2016 Introduction: SMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoracoabdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is ...
Aliverti, A. +5 more
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Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine
Advanced Science, EarlyView.Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang +4 more
wiley +1 more source
Simultaneous column-based deep learning progression analysis of atrophy associated with AMD in longitudinal OCT studies [PDF]
arXiv, 2023 Purpose: Disease progression of retinal atrophy associated with AMD requires the accurate quantification of the retinal atrophy changes on longitudinal OCT studies. It is based on finding, comparing, and delineating subtle atrophy changes on consecutive pairs (prior and current) of unregistered OCT scans.
arxiv
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
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