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 …

Current understanding of environmental cross-talk with genetic makeup is found to be
mediated through an epigenetic interface which is associated with prominent reversible and …

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or
mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed …

After 26 years of discovery of the determinant survival motor neuron 1 and the modifier
survival motor neuron 2 genes (SMN1 and SMN2, respectively), three SMN-dependent …

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 …

Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the
SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity …

Neuromuscular disorders are a heterogeneous group of conditions affecting the
neuromuscular system. The aim of this article is to review the major epigenetic findings in …

We performed immunofluorescent analysis of DNA hydroxymethylation and methylation in
human testicular spermatogenic cells from azoospermic patients and ejaculated …

Spinal muscular atrophy is a progressive motor neuron disorder caused by deletions or
point mutations in the SMN1 gene. It is not known why motor neurons are particularly …

Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited
diseases and is the most common genetic cause of infant mortality. SMA is associated with …