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 …

Spinal muscular atrophy: a changing phenotype beyond the clinical trials

EF Tizzano, RS Finkel - Neuromuscular Disorders, 2017 - Elsevier
Spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by
deletion or mutation in the SMN1 gene. A broad range of phenotypic severity, from very …

New and developing therapies in spinal muscular atrophy: from genotype to phenotype to treatment and where do we stand?

TH Chen - International journal of molecular sciences, 2020 - mdpi.com
Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by
motor neuron loss, resulting in progressive weakness. SMA is notable in the health care …

Spinal muscular atrophy: a timely review

SJ Kolb, JT Kissel - Archives of neurology, 2011 - jamanetwork.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most …

[HTML][HTML] Spinal muscular atrophy

TW Prior, ME Leach, E Finanger - 2020 - europepmc.org
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting
from progressive degeneration and irreversible loss of the anterior horn cells in the spinal …

Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next

B Wirth, M Karakaya, MJ Kye… - Annual review of …, 2020 - annualreviews.org
Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …

In search of a cure: the development of therapeutics to alter the progression of spinal muscular atrophy

KS Ojala, EJ Reedich, CJ DiDonato, SD Meriney - Brain Sciences, 2021 - mdpi.com
Until the recent development of disease-modifying therapeutics, spinal muscular atrophy
(SMA) was considered a devastating neuromuscular disease with a poor prognosis for most …

Spinal muscular atrophy

M Oskoui, P Kaufmann - Neurotherapeutics, 2008 - Springer
Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular
disease frequently manifesting in infancy and childhood. The discovery of the underlying …

Spinal muscular atrophy: past, present, and future

LF Ross, JM Kwon - Neoreviews, 2019 - publications.aap.org
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused
by deletions or mutations in the survival motor neuron (SMN1) gene. SMA is characterized …