Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the
most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function …

Spinal muscular atrophy (SMA) is a motor-neuron disease caused by mutations of the SMN1
gene. The human paralog SMN2, whose exon 7 (E7) is predominantly skipped, cannot …

Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent
findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) …

Genetic changes are difficult to reverse; thus, epigenetic aberrations, including changes in
DNA methylation, histone modifications, and noncoding RNAs, with potential reversibility …

Spinal muscular atrophy (SMA) is a severe genetic disorder characterized by the loss of
motor neurons, leading to progressive muscle weakness, loss of mobility, and respiratory …

Since the introduction of disease modifying treatments there is an unmet need to identify
biomarkers of spinal muscular atrophy (SMA) natural history. We performed a systematic …

Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are
some of the biggest public health challenges due to their spread and increasing incidence …

Simple Summary Globally, 5q spinal muscular atrophy (SMA) is one of the most common
pediatric autosomal recessive neuromuscular diseases, with a prevalence of~ 1–2 per …

5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases
due to homozygous mutations in the SMN1 gene. This leads to a loss of function of the …