Spinal muscular atrophy: from gene discovery to clinical trials

DK Nurputra, PS Lai, NIF Harahap… - Annals of human …, 2013 - Wiley Online Library
Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal
recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the …

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 …

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

FD Tiziano, J Melki, LR Simard - American Journal of Medical …, 2013 - Wiley Online Library
Spinal muscular atrophy (SMA) is an autosomal recessive, lower motor neuron disease.
Clinical heterogeneity is pervasive: three infantile (type I–III) and one adult‐onset (type IV) …

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 …

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

B Wirth - Human mutation, 2000 - Wiley Online Library
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the
spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle …

Childhood spinal muscular atrophy

DS Younger, JR Mendell - Handbook of clinical neurology, 2023 - Elsevier
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor
neuron 1) gene on chromosome 5q13. 2, which leads to a progressive degeneration of …

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy

Y Sun, M Grimmler, V Schwarzer, F Schoenen… - Human …, 2005 - Wiley Online Library
The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and
frequent cause of early death in childhood, is caused in 96% of patients by homozygous …

Spinal muscular atrophy: overview of molecular diagnostic approaches

TW Prior, N Nagan - Current protocols in human genetics, 2016 - Wiley Online Library
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and
the most common genetic cause of infant mortality, affecting∼ 1 in 10,000 live births. The …

Spinal muscular atrophy

A D'Amico, E Mercuri, FD Tiziano, E Bertini - Orphanet journal of rare …, 2011 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …

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 …