Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder
affecting upper and lower motor neurons, with death resulting mainly from respiratory failure …

Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative syndrome. In up
to 20% of cases, a family history is observed. Although Mendelian disease gene variants are …

Several genetically-targeted therapies are being developed for ALS. Research is
increasingly supportive of a greater incidence of clinically actionable variants in sporadic …

The adverse physiological conditions have been long known to impact protein synthesis,
folding and functionality. Major physiological factors such as the effect of pH, temperature …

In amyotrophic lateral sclerosis (ALS) patients, loss of cellular homeostasis within cortical
and spinal cord motor neurons triggers the activation of the integrated stress response (ISR) …

The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and
phenotypic variability. Traditionally, neurophysiology and histopathology were primarily …

As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting
increases, the identification of at‐risk family members has also expanded. No practice …

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with a rapid
progression and no effective treatment. Metabolic and mitochondrial alterations in peripheral …