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 …
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 …
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) …
Clinical heterogeneity is pervasive: three infantile (type I–III) and one adult‐onset (type IV) …
Spinal muscular atrophy: mechanisms and therapeutic strategies
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 …
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 …
spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle …
[HTML][HTML] Spinal muscular atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …
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 …
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 …
the most common genetic cause of infant mortality, affecting∼ 1 in 10,000 live births. The …
Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next
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 …
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
Best practice guidelines for molecular analysis in spinal muscular atrophy
H Scheffer, JM Cobben, G Matthijs… - European journal of human …, 2001 - nature.com
With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40–1/60 the
proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal …
proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal …