Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …

Newborn screening for treatable disorders is one of the great public health success stories
of the twentieth century worldwide. This commentary examines the potential use of a new …

The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …

Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons
associated with progressive muscle weakness and atrophy, is the most common genetic …

Objectives Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor
neuron (SMN) protein, which results in motoneuron loss. Therapeutic strategies to increase …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene …

Nonsense codons, generated from nonsense mutations or frameshifts, contribute
significantly to the spectrum of inherited human diseases such as cystic fibrosis, Duchenne …

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron
(SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins …

Objective: To review the efficacy and safety of nusinersen (Spinraza) in the treatment of
spinal muscular atrophy (SMA). Data Sources: An English-language literature search of …

Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal
muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a …