Spinal muscular atrophy: mutations, testing, and clinical relevance
MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
H Nishio, ETE Niba, T Saito, K Okamoto… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …
[HTML][HTML] Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
D Chand, F Mohr, H McMillan, FF Tukov… - Journal of …, 2021 - Elsevier
Background & Aims Spinal muscular atrophy (SMA) is an autosomal recessive, childhood-
onset motor neuron disease. Onasemnogene abeparvovec (OA) is a gene therapy designed …
onset motor neuron disease. Onasemnogene abeparvovec (OA) is a gene therapy designed …
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 …
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening
J Glascock, J Sampson… - Journal of …, 2018 - content.iospress.com
Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease
characterized by the degeneration of alpha motor neurons in the spinal cord, leading to …
characterized by the degeneration of alpha motor neurons in the spinal cord, leading to …
[HTML][HTML] Gene therapy for spinal muscular atrophy (SMA): A review of current challenges and safety considerations for onasemnogene abeparvovec (Zolgensma)
T Ogbonmide, R Rathore, SB Rangrej, S Hutchinson… - Cureus, 2023 - ncbi.nlm.nih.gov
Abstract Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and
wasting in the voluntary muscles of infants and children. SMA has been the leading inherited …
wasting in the voluntary muscles of infants and children. SMA has been the leading inherited …
Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy
M Iftikhar, J Frey, MJ Shohan, S Malek… - Pharmacology & …, 2021 - Elsevier
Many neuromuscular diseases are genetically inherited or caused by mutations in motor
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …
[HTML][HTML] Delay in diagnosis of spinal muscular atrophy: a systematic literature review
CW Lin, SJ Kalb, WS Yeh - Pediatric neurology, 2015 - Elsevier
Background Spinal muscular atrophy is a rare genetic disease with devastating
neurodegenerative consequences. Timing of diagnosis is crucial for spinal muscular atrophy …
neurodegenerative consequences. Timing of diagnosis is crucial for spinal muscular atrophy …
Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study
Y Qian, S McGraw, J Henne, J Jarecki, K Hobby… - BMC neurology, 2015 - Springer
Background The clinical features of SMA, which range along a spectrum of severity, are
relatively well described. In contrast, the literature on how individuals with SMA and their …
relatively well described. In contrast, the literature on how individuals with SMA and their …
Spinal muscular atrophy—recent therapeutic advances for an old challenge
I Faravelli, M Nizzardo, GP Comi, S Corti - Nature Reviews Neurology, 2015 - nature.com
In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …