Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …

Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …

Background & Aims Spinal muscular atrophy (SMA) is an autosomal recessive, childhood-
onset motor neuron disease. Onasemnogene abeparvovec (OA) is a gene therapy designed …

Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by
low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the …

Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and
infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene …

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by loss of α-motor
neurons, leading to profound skeletal muscle atrophy. Patients also suffer from decreased …

Objectives To elucidate the motor unit response to intrathecal nusinersen in children with
symptomatic spinal muscular atrophy (SMA) using a novel motor unit number estimation …

Proper development and function of the mammalian brain is critically dependent on a steady
supply of its chief energy source, glucose. Such supply is mediated by the glucose …

Spinal muscular atrophy (SMA), the most common genetic cause of infantile death, is
caused by a mutation in the survival of motor neuron 1 gene (SMN1), leading to the death of …

Spinal muscular atrophy (SMA) is caused by low levels of survival motor neuron (SMN), a
multifunctional protein essential for higher eukaryotes. While SMN is one of the most …