Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
SMN deficiency causes neurodegenerative disease spinal muscular atrophy (SMA).
|
31799625 |
2020 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Reduced expression of the survival motor neuron (SMN) protein causes the neurodegenerative disease spinal muscular atrophy (SMA).
|
31851921 |
2019 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
A detailed molecular understanding of how motor neurons fail, and why other neurons do not, in SMA will yield important principals about motor neuron maintenance and neuronal specificity in neurodegenerative diseases.
|
29462610 |
2018 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is primarily a neurodegenerative disease caused by the homozygous deletion of the survival motor neuron 1 (SMN1) gene, thereby reducing SMN protein expression.
|
29209912 |
2018 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant efforts have been made to reveal the molecular functions of this ubiquitously expressed protein.
|
29872871 |
2018 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor neurons-a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA)-through poorly understood mechanisms.
|
30012555 |
2018 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The childhood neurodegenerative disease spinal muscular atrophy (SMA) is caused by loss-of-function mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene resulting in insufficient levels of survival motor neuron (SMN) protein.
|
28069797 |
2017 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA).
|
28852871 |
2017 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by alpha motor neuron loss in the spinal cord due to reduced survival motor neuron (SMN) protein level.
|
28635376 |
2017 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disorder that results from mutations in the SMN1 gene, leading to survival motor neuron (SMN) protein deficiency.
|
29103974 |
2017 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The reduced level of survival motor neuron (SMN) protein, caused by homozygous deletions in the SMN gene, led to a common neurodegenerative disorder known as spinal muscular atrophy (SMA).
|
26331341 |
2016 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss of Survival Motor Neuron-1 (SMN1) causes Spinal Muscular Atrophy, a devastating neurodegenerative disease.
|
27401142 |
2016 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is an inherited childhood neurodegenerative disorder caused by ubiquitous deficiency of the survival motor neuron (SMN) protein - the hallmarks of which are the selective loss of motor neurons and skeletal muscle atrophy.
|
27472505 |
2016 |
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy is a neurodegenerative disorder caused by the deficient expression of survival motor neuron protein in motor neurons.
|
27353697 |
2016 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA), a heritable neurodegenerative disease, results from insufficient levels of the survival motor neuron (SMN) protein.
|
26464491 |
2015 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation of the Survival Motor Neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disorder that occurs in early childhood.
|
26423457 |
2015 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development.
|
24590288 |
2014 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by the loss of Survival Motor Neuron-1 (SMN1).
|
24781211 |
2014 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The survival motor neuron (SMN) protein is key to this biological paradigm: SMN is essential for the biogenesis of various RNPs that function in mRNA processing, and genetic mutations leading to SMN deficiency cause the neurodegenerative disease spinal muscular atrophy.
|
24769255 |
2014 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene.
|
23352792 |
2013 |
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The clinical severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein.
|
23757500 |
2013 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein.
|
24332368 |
2013 |
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
|
23185376 |
2012 |
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease associated with low levels of the essential survival motor neuron (SMN) protein.
|
22763238 |
2012 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the ubiquitously expressed SMN protein.
|
22330725 |
2012 |