Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6
to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion …

Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in
the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of …

Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of
the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival …

Disease-modifying treatments have transformed the natural history of spinal muscular
atrophy (SMA), but the cellular pathways altered by SMN restoration remain undefined and …

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by the
selective loss of spinal motor neurons (MNs) and concomitant muscle weakness. Mutation of …

Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality.
Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients …

The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability
of SMN2 gene copy number determination and to reinforce collaborative networks between …

Spinal muscular atrophy (SMA) is a recessive, developmental disorder caused by the 33
genetic loss or mutation of the gene SMN1 (Survival of Motor Neuron 1). SMA is 34 …

Spinal muscular atrophy is a devastating motor neuron disease characterized by severe
cases of fatal muscle weakness. It is one of the most common genetic causes of mortality …

Abstract The RNAse III DICER is essential for miRNA biogenesis. DICER activity is
downregulated in sporadic and genetic forms of ALS. Accordingly, hundreds of miRNAs are …