Proximal spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality.
Traditionally, SMA has been described as a motor neuron disease; however, there is a growing …

The loss of motor neurons (MNs) is a hallmark of the neuromuscular disease spinal muscular
atrophy (SMA); however, it is unclear whether this phenotype autonomously originates …

Absence of dystrophin makes skeletal muscle more susceptible to injury, resulting in breaches
of the plasma membrane and chronic inflammation in Duchenne muscular dystrophy (…

Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no
available therapy. SMA is caused by loss or mutation of the survival motor neuron 1 gene, …

The amount and distribution of dystrophin protein in myofibers and muscle is highly variable
in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. …

… CR Heier and this project were funded by the NIH (K99HL130035, R00HL130035, and
L40AR068727). A Fiorillo is supported by the Department of Defense (W81XWH-17-1-047). …

Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN)
protein due to the functional loss of the SMN1 gene and the inability of its paralog, …

OBJECTIVE: Serum biomarkers may serve to predict early response to therapy, identify
relapse, and facilitate drug development in inflammatory bowel disease (IBD). Biomarkers are …

Background We sought to identify microRNAs (miRNAs) associated with response to anti-TNF-α
or glucocorticoids in children with inflammatory bowel disease (IBD) to generate …

Corticosteroids are extensively used in pediatrics, yet the burden of side effects is significant.
Availability of a simple, fast and reliable biochemical read out of steroidal drug …