Although the pathogenesis of neurodegenerative diseases is still widely unclear, various
mechanisms have been proposed and several pieces of evidence are supportive for an …

Neurodegenerative diseases are disabling and fatal neurological disorders that currently
lack effective treatment. Neural stem cell (NSC) transplantation has been studied as a …

In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

Autosomal dominant progressive external ophthalmoplegia is a rare human disease that
shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …

Stem cells are undifferentiated cells defined by their ability to self-renew and differentiate to
progenitors and terminally differentiated cells. Stem cells have been isolated from almost all …

Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive muscle disease due to
defect on the gene encoding dystrophin. The lack of a functional dystrophin in muscles …