|
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 |
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 |
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 |
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 |
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 |
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 a deficiency of functional SMN protein because of mutations in SMN1.
|
21334976 |
2011 |
|
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 |
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 |
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 autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN).
|
9837824 |
1998 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
|
28178525 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Insight into RNP assembly has come unexpectedly from functional analyses of the survival motor neuron (SMN) protein, a gene product that is affected in the neuromuscular disease spinal muscular atrophy.
|
12441251 |
2002 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
By analyzing other neuromuscular disorders, we showed that most of them (14 of 18) were specific to the SMN defect.
|
16118268 |
2006 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Intriguingly, among FRG1P-associated proteins are SMN and PABPN1, both being involved in neuromuscular disorders, possibly through RNA biogenesis-related processes.
|
17103222 |
2007 |
|
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 |
Biomarker
|
group |
BEFREE |
Over the last 10 years, research into the function of Cajal bodies has been greatly stimulated by the discovery that SMN, the protein deficient in the inherited neuromuscular disease, spinal muscular atrophy, is a Cajal body component and has an essential role in the assembly of spliceosomal U snRNPs in the cytoplasm and their delivery to the Cajal body in the nucleus.
|
18755223 |
2008 |
|
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 |
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 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein.
|
18492800 |
2008 |