The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …

Oxidative stress, inflammation, mitochondrial dysfunction, reduced protein synthesis, and
increased proteolysis are all critical factors in the process of muscle atrophy. In particular …

Antisense oligonucleotides (ASOs) are short single stranded synthetic RNA or DNA
molecules, whereas double-stranded RNA nucleotide sequences are called small …

Objective To investigate biomarkers of disease progression in cerebrospinal fluid (CSF) and
serum in adult patients with spinal muscular atrophy (SMA). Furthermore, we assess the …

Abstract 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by
mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive …

Motor neuron disease (MND), including amyotrophic lateral sclerosis, spinal muscular
atrophy and others, involved the upper or lower motor neurons selective loss, is …

Background Studies regarding the impact of (neuro) inflammation and inflammatory
response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in …

Spinal muscular atrophy (SMA) type 1 is a severe infantile autosomal-recessive
neuromuscular disorder caused by a survival motor neuron 1 gene (SMN1) mutation and …

Introduction Spinal muscular atrophy (SMA) is a fatal neurodegenerative disorder,
characterized by motor neuron (MN) degeneration and severe muscular atrophy and caused …

Survival motor neuron (SMN) protein deficiency results in loss of alpha motor neurons and
subsequent muscle atrophy in patients with spinal muscular atrophy (SMA). Reactive …