Spinal muscular atrophy (SMA) is an inherited neuromuscular disease caused by deletion or
mutation of SMN1 gene. All SMA patients carry a nearly identical SMN2 gene, which …

[緒言] 脊髄性筋萎縮症 (Spinal muscular atrophy, SMA) は, 脊髄前角細胞の変性・脱落に
ともない, 体幹・四肢近位部優位の進行性の筋緊張低下・萎縮を生じる遺伝性運動ニューロン病の一 …

Background: Nusinersen has recently been approved and more widely used as first-line
treatment of spinal muscular atrophy (SMA). This study aimed to evaluate the real-world …

BACKGROUND Spinal Muscular Atrophy (SMA) is a common autosomal recessive
neuromuscular disorder characterized by degeneration or loss of lower motor neurons. More …

Both Duchenne muscular dystrophy (DMD; OMIM no. 310200) and spinal muscular atrophy
(SMA; OMIM no. 253300/253550/253400/271150) are genetic disorders characterized by …

Spinal muscular atrophy (SMA) is a severe autosomal recessive disease caused by a
genetic defect in the survival motor neuron 1 (SMN1) gene, which encodes SMN, a protein …

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
that is currently incurable. SMA is caused by decreased levels of the survival motor neuron …

Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy;
mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established …

Several histone deacetylase inhibitors (HDACis) are known to increase Survival Motor
Neuron 2 (SMN2) expression for the therapy of spinal muscular atrophy (SMA). We aimed to …

Introduction: Research into the pathogenic mechanisms behind frontotemporal dementia
(FTD) has yielded several new targets for therapeutic intervention; such targets include …