Spinal muscular atrophy: diagnosis and management in a new therapeutic era
WD Arnold, D Kassar, JT Kissel - Muscle & nerve, 2015 - Wiley Online Library
Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor
neuron loss. In this review we provide an update regarding the most common form of SMA …
neuron loss. In this review we provide an update regarding the most common form of SMA …
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 …
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment
DM Ramos, C d'Ydewalle, V Gabbeta… - The Journal of …, 2019 - Am Soc Clin Investig
BACKGROUND Spinal muscular atrophy (SMA) is caused by deficient expression of survival
motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable …
motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable …
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 …
Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?
M Shababi, CL Lorson… - Journal of …, 2014 - Wiley Online Library
Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading
genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral …
genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral …
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
L Kong, DO Valdivia, CM Simon… - Science translational …, 2021 - science.org
Gene replacement and pre-mRNA splicing modifier therapies represent breakthrough gene
targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but …
targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but …
Disease mechanisms and therapeutic approaches in spinal muscular atrophy
S Tisdale, L Pellizzoni - Journal of Neuroscience, 2015 - Soc Neuroscience
Motor neuron diseases are neurological disorders characterized primarily by the
degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often …
degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often …
Deficiency of the survival of motor neuron protein impairs mRNA localization and local translation in the growth cone of motor neurons
Spinal muscular atrophy (SMA) is a neurodegenerative disease primarily affecting spinal
motor neurons. It is caused by reduced levels of the survival of motor neuron (SMN) protein …
motor neurons. It is caused by reduced levels of the survival of motor neuron (SMN) protein …
Muscle-specific SMN reduction reveals motor neuron–independent disease in spinal muscular atrophy models
Paucity of the survival motor neuron (SMN) protein triggers the oft-fatal infantile-onset motor
neuron disorder, spinal muscular atrophy (SMA). Augmenting the protein is one means of …
neuron disorder, spinal muscular atrophy (SMA). Augmenting the protein is one means of …
Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease
Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile …
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile …