|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in survival motor neuron 1 (SMN1).
|
31211843 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene.
|
30660867 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a health- and life-limiting neuromuscular disorder caused by a deficiency in survival motor neuron (SMN) protein.
|
31361024 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months.
|
30548438 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Metabolic and sleep perturbations occur in spinal muscular atrophy (SMA), a neuromuscular disorder caused by loss of the survival motor neuron (SMN) protein and characterized by motor neuron loss and muscle atrophy.
|
29982483 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Other variants found were associated with a neuromuscular disease (<i>SMN1, MYH2,</i> and <i>LMNA</i> genes), neurodegenerative disorder (<i>TSPOAP1, CACNA1A</i>, <i>ALS2, and SCN2A</i> genes), multisystemic disease (<i>EPG5, NKX1-2, ATRX,</i> and <i>ABCC6</i> genes), and one in an isolated cardiomyopathy causing gene (<i>MYBPC3</i>).
|
30009132 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration.
|
28808928 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (SMN1).
|
30006696 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects.
|
29327642 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of functional survival motor neuron (SMN) protein.
|
30102724 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder most commonly caused by a deletion or mutation in the survival motor neuron 1 (SMN1) gene, which leads to insufficient levels of survival motor neuron (SMN) protein.
|
30027400 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene.
|
29290580 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1.
|
29433793 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by inactivating mutations in the Survival of motor neuron 1 (SMN1) gene, resulting in decreased SMN protein expression.
|
28648462 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
|
28178525 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein.
|
28379354 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (SMN1).
|
29259166 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein.
|
29091570 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2.
|
28460014 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein.
|
28642865 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein.
|
27557711 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The neuromuscular disorder spinal muscular atrophy (SMA), the most common inherited killer of infants, is caused by insufficient expression of survival motor neuron (SMN) protein.
|
28017471 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, whose role in pathogenesis remains unclear.
|
29069603 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein.
|
27699224 |
2016 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The neuromuscular disease spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting from low levels of full-length survival motor neuron (SMN) protein.
|
27460344 |
2016 |