Amyotrophic lateral sclerosis and spinal muscular atrophy are devastating
neurodegenerative diseases that lead to the specific loss of motor neurons. Recently, stem …

Neuromuscular disorders are a large group of rare pathologies characterised by skeletal
muscle atrophy and weakness, with the common involvement of respiratory and/or cardiac …

Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the
discovery of these underlying genes has expanded greatly in the past three decades. The …

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

Introduction Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal
storage disease caused by arylsulfatase A (ARSA) deficiency. The disease primarily affects …

Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterised by
loss of motor neurons. The cause of disease is unknown other than in the rare cases of …

Leukodystrophies are rare diseases caused by defects in the genes coding for lysosomal
enzymes that degrade several glycosphingolipids. Gene therapy for leukodystrophies …

Gene therapy for the muscular dystrophies has evolved as a promising treatment for this
progressive group of disorders. Although corticosteroids and/or supportive treatments …

The quest for a therapy for muscular dystrophy has been the driving force behind the past 40
years of advances in this field. Numerous results, such as the identification of satellite cells …