|
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 |
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 |
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 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 |
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 |
Biomarker
|
group |
BEFREE |
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
|
28178525 |
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 low levels of SMN protein, whose role in pathogenesis remains unclear.
|
29069603 |
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 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 common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein.
|
28379354 |
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 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 |
Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by mutations in the Survival Motor Neuron 1 gene, resulting in very low levels of functional Survival of Motor Neuron (SMN) protein.
|
27483257 |
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 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the selective loss of spinal motor neurons due to the depletion of the survival of motor neuron (SMN) protein.
|
26311784 |
2015 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder.
|
25144193 |
2014 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder that stems from low levels of survival of motor neuron (SMN) protein.
|
23727837 |
2013 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (SMN1) gene and deficient expression of the ubiquitously expressed SMN protein.
|
22798624 |
2012 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of functional SMN protein because of mutations in SMN1.
|
21334976 |
2011 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced levels of the survival motor neuron (SMN) protein.
|
21693563 |
2011 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This neuromuscular disorder is caused by the loss or mutation of the telomeric copy of the 'survival of motor neuron' (Smn) gene, termed SMN1.
|
21118896 |
2011 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a common (approximately 1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the survival of motor neuron (SMN) protein.
|
20826664 |
2010 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Gemins 2-8 and Unr-interacting protein (UNRIP) are intimate partners of the survival motor neuron (SMN) protein, which is the determining factor for the neuromuscular disorder spinal muscular atrophy (SMA).
|
20954180 |
2010 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein.
|
20515750 |
2010 |