Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-
glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and …

Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA)
deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in …

In Pompe disease, the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA)
causes skeletal and cardiac muscle weakness, respiratory failure, and premature death …

A recombinant serotype 9 adeno-associated virus (rAAV9) vector carrying a transgene that
expresses codon-optimized human acid alpha-glucosidase (hGAA, or GAA) driven by a …

Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal
enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen …

Objective We have recently reported on the pathology of the neuromuscular junction (NMJ)
in Pompe disease, reflecting disruption of neuronal and muscle homeostasis as a result of …

Pompe disease is a progressive neuromuscular disorder caused by lysosomal accumulation
of glycogen from a deficiency in acid alpha-glucosidase (GAA). Replacement of the missing …

Reaction time (RT) is the time interval between the appearance of a stimulus and initiation of
a motor response. Within RT, two processes occur, selection of motor goals and motor …

Background Electrodiagnosis can reveal the nerve and muscle changes following surgical
placement of an extracellular matrix (ECM) bioscaffold for treatment of volumetric muscle …