Background Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified
in amyotrophic lateral sclerosis (ALS). Methods The relative contributions of the different …

Death represents the main hallmark of amyotrophic lateral sclerosis (ALS). Despite its
importance in clinical care and phase III trials, many uncertainties remain on the cause of death …

Amyotrophic lateral sclerosis is a typically rapidly progressive neurodegenerative disorder
affecting motor neurons leading to progressive muscle paralysis and death, usually from …

Background and purpose To assess the efficacy and safety of olesoxime, a molecule with
neuroprotective properties, in patients with amyotrophic lateral sclerosis ( ALS ) treated with …

Objective Data from mouse models of amyotrophic lateral sclerosis ( ALS ) suggest early
morphological changes in neuromuscular junctions ( NMJ s), with loss of nerve–muscle contact. …

Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated
with respiratory muscle weakness and respiratory failure. Non-invasive ventilation …

Non‐invasive ventilation (NIV) has become an essential part of the treatment of amyotrophic
lateral sclerosis (ALS) since 2006. NIV very significantly improves survival, quality of life and …

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive
lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been …

Background: Cobalamin C disease is the most common inborn error of cobalamin metabolism
with an autosomal recessive mode of inheritance and mutations within the MMACHC gene…

Mutations in OPTN gene encoding optineurin have recently been identified at the homozygote
and heterozygote state in Japanese families with slowly progressive amyotrophic lateral …