[HTML][HTML] Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births …
survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births …
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 …
Single-dose gene-replacement therapy for spinal muscular atrophy
JR Mendell, S Al-Zaidy, R Shell… - … England Journal of …, 2017 - Mass Medical Soc
Background Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor
neuron disease with an onset during infancy that results in failure to achieve motor …
neuron disease with an onset during infancy that results in failure to achieve motor …
[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 …
Observational study of spinal muscular atrophy type I and implications for clinical trials
Objectives: Prospective cohort study to characterize the clinical features and course of spinal
muscular atrophy type I (SMA-I). Methods: Patients were enrolled at 3 study sites and …
muscular atrophy type I (SMA-I). Methods: Patients were enrolled at 3 study sites and …
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: 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 …
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
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 …
low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the …
The first orally deliverable small molecule for the treatment of spinal muscular atrophy
Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …
mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or …
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
SM Hammond, G Hazell… - Proceedings of the …, 2016 - National Acad Sciences
The development of antisense oligonucleotide therapy is an important advance in the
identification of corrective therapy for neuromuscular diseases, such as spinal muscular …
identification of corrective therapy for neuromuscular diseases, such as spinal muscular …