New treatments in spinal muscular atrophy: positive results and new challenges
S Messina, M Sframeli - Journal of clinical medicine, 2020 - mdpi.com
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …
with progressive weakness of skeletal and respiratory muscles, leading to significant …
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 …
Base editing rescue of spinal muscular atrophy in cells and in mice
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice
Spinal muscular atrophy (SMA), which results from the loss of expression of the survival of
motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric …
motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric …
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
G Thomsen, AHM Burghes, C Hsieh, J Do, BTT Chu… - Nature medicine, 2021 - nature.com
Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …
Emerging therapies and challenges in spinal muscular atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
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 …
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 …
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 …
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 …