Protein–RNA interactions have crucial roles in various cellular activities, which, when
dysregulated, can lead to a range of human diseases. The identification of small molecules …

Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine,
and its growth is attributed to advances in genome sequencing and genetic testing and the …

Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

Spinal muscular atrophy (SMA) is a motor neuron disease. Nusinersen, a splice-switching
antisense oligonucleotide (ASO), was the first approved drug to treat SMA. Based on prior …

This systematic review and meta‐analysis aimed to assess the efficacy and safety of
risdiplam on motor and respiratory function in spinal muscular atrophy (SMA). We …

Oligonucleotides have shifted drug discovery into a new paradigm due to their ability to
silence the genes and inhibit protein translation. Importantly, they can drug the un-druggable …

One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene
abeparvovec, which transduces motor neurons with the survival of motor neuron gene. The …

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and
differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially …

Common neurodegenerative diseases of the central nervous system are characterized by
progressive damage to the function of neurons, even leading to the permanent loss of …

To evaluate the effect of pharmacological treatments that increase the synthesis of
dystrophin in Duchenne muscular dystrophy (DMD). Systematic searches were carried out in …