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 …

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 …

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 …

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 …

Spinal muscular atrophy: recent advances and future prospects

S Nicole, CC Diaz, T Frugier… - Muscle & Nerve: Official …, 2002 - Wiley Online Library
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons
associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive …

Spinal muscular atrophy—insights and challenges in the treatment era

E Mercuri, MC Pera, M Scoto, R Finkel… - Nature Reviews …, 2020 - nature.com
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

[HTML][HTML] Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

UR Monani - Neuron, 2005 - cell.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most
common genetic cause of infant mortality. The disease results in motor neuron loss and …

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: mechanisms and therapeutic strategies

CL Lorson, H Rindt, M Shababi - Human molecular genetics, 2010 - academic.oup.com
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of …

[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 …