Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations
DK Nurputra, J Sofian, K Iskandar, A Triono… - Neurological …, 2024 - Springer
Abstract Spinal Muscular Atrophy (SMA) emerges as a prominent genetic neuromuscular
disorder primarily caused by variants in the survival motor neuron (SMN) gene. However, it …
disorder primarily caused by variants in the survival motor neuron (SMN) gene. However, it …
[HTML][HTML] Spinal muscular atrophy and current new generation treatment
Spinal muscular atrophy (SMA) is an uncommon neuromuscular disorder characterized by
the gradual degeneration and weakening of muscles. The condition often manifests in the …
the gradual degeneration and weakening of muscles. The condition often manifests in the …
[PDF][PDF] Novel Basic Carrier Test-Detection of SMA by discrimination of SMN1 & SMN2 using long-read sequencing (ONT) & artificial intelligence (AI)
CKMC Garrido-Navas, D Galevski, G Madjarov… - a.storyblok.com
MATERIALS & METHODS RESULTS CONCLUSIONS REFERENCES Page 1 Novel Basic
Carrier Test - Detection of SMA by discrimination of SMN1 & SMN2 using long-read sequencing …
Carrier Test - Detection of SMA by discrimination of SMN1 & SMN2 using long-read sequencing …
[HTML][HTML] Illuminating spinal muscular atrophy-update 2023
N Davies - Biotechnology, 2023 - thepharmaletter.com
SMA, which has an incidence ranging from 1 in 6,000 to 1 in 10,000 live births, is
characterized by muscle weakness, loss of ambulation, and respiratory insufficiency, which …
characterized by muscle weakness, loss of ambulation, and respiratory insufficiency, which …