[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 …
Nusinersen versus sham control in later-onset spinal muscular atrophy
Background Nusinersen is an antisense oligonucleotide drug that modulates pre–
messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been …
messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been …
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] Nusinersen versus sham control in infantile-onset spinal muscular atrophy
Background Spinal muscular atrophy is an autosomal recessive neuromuscular disorder
that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is …
that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is …
[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 …
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Background Nusinersen is a 2′-O-methoxyethyl phosphorothioate-modified antisense drug
being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to …
being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to …
Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
M Calucho, S Bernal, L Alías, F March… - Neuromuscular …, 2018 - Elsevier
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in
SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are …
SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are …
[HTML][HTML] Advances in treatment of spinal muscular atrophy–new phenotypes, new challenges, new implications for care
DC Schorling, A Pechmann… - Journal of …, 2020 - content.iospress.com
Abstract Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …
SMN1 and results in the loss of motor neurons and progressive muscle weakness. The …
Natural history of infantile‐onset spinal muscular atrophy
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …
of infant mortality, typically resulting in death preceding age 2. Clinical trials in this …