Diverse role of survival motor neuron protein
RN Singh, MD Howell, EW Ottesen… - Biochimica et Biophysica …, 2017 - Elsevier
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 …
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …
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 …
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 …
[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ …
This is the second half of a two-part document updating the standard of care
recommendations for spinal muscular atrophy published in 2007. This part includes updated …
recommendations for spinal muscular atrophy published in 2007. This part includes updated …
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 …
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of
infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 …
infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 …
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 …
Childhood spinal muscular atrophy: controversies and challenges
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration
of motor neurons in the spinal cord and is caused by mutations of the survival of motor …
of motor neurons in the spinal cord and is caused by mutations of the survival of 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 …