Spinal muscular atrophy: in the challenge lies a solution
B Wirth - Trends in neurosciences, 2021 - cell.com
The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …
highly challenging endeavor, but also led to one of the most successful stories in …
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit
M Van Alstyne, I Tattoli, N Delestrée, Y Recinos… - Nature …, 2021 - nature.com
The neurodegenerative disease spinal muscular atrophy (SMA) is caused by deficiency in
the survival motor neuron (SMN) protein. Currently approved SMA treatments aim to restore …
the survival motor neuron (SMN) protein. Currently approved SMA treatments aim to restore …
Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next
Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
[HTML][HTML] Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons
BJ Wainger, E Kiskinis, C Mellin, O Wiskow, SSW Han… - Cell reports, 2014 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor
nervous system. We show using multielectrode array and patch-clamp recordings that …
nervous system. We show using multielectrode array and patch-clamp recordings that …
The complement system: an unexpected role in synaptic pruning during development and disease
AH Stephan, BA Barres… - Annual review of …, 2012 - annualreviews.org
An unexpected role for the classical complement cascade in the elimination of central
nervous system (CNS) synapses has recently been discovered. Complement proteins are …
nervous system (CNS) synapses has recently been discovered. Complement proteins are …
Spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
Spinal muscular atrophy: going beyond the motor neuron
G Hamilton, TH Gillingwater - Trends in molecular medicine, 2013 - cell.com
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low
cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were …
cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were …
Muscle spindle function in healthy and diseased muscle
S Kröger, B Watkins - Skeletal Muscle, 2021 - Springer
Almost every muscle contains muscle spindles. These delicate sensory receptors inform the
central nervous system (CNS) about changes in the length of individual muscles and the …
central nervous system (CNS) about changes in the length of individual muscles and the …
Spinal muscular atrophies
BT Darras, JA Markowitz, UR Monani… - … disorders of infancy …, 2015 - Elsevier
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …
neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is …