Many diseases are caused by insufficient expression of mutated genes and would benefit
from increased expression of the corresponding protein. However, in drug development, it …

RNA-based therapies have catalyzed a revolutionary transformation in the biomedical
landscape, offering unprecedented potential in disease prevention and treatment. However …

Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Background Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of
the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal …

Objectives This systematic review aimed to assess mid-and long-term (at least 12 months)
real-world study data from all types of spinal muscular atrophy (SMA) patients treated with …

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
one of the most common genetic causes of infant death. It is characterized by progressive …

Loss or deletion of survival motor neuron 1 gene (SMN1) is causative for a severe and
devastating neuromuscular disease, Spinal Muscular Atrophy (SMA). SMN1 produces SMN …

The spinal cord is a conduit within the central nervous system (CNS) that provides ongoing
communication between the brain and the rest of the body, conveying complex sensory and …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

The natural history of spinal muscular atrophy has been radically changed by the advent of
improved standards of care and the availability of disease-modifying therapies. The aim of …