|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression.
|
29790918 |
2018 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, these protein interaction data have linked the three etiologic factors HspB8, HspB1, and SMN protein, and mutations in any of their genes cause the various forms of MND.
|
20157854 |
2010 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein.
|
21325354 |
2011 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2.
|
30788592 |
2019 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
In contrast, the role of the centromeric copy of the SMN gene (SMN2) in MND remains unclear.
|
11993528 |
2002 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene.
|
19884170 |
2010 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our observations linking U1 snRNP to ALS patient cells with FUS mutations, SMN-containing Gems, and motor neurons indicate that U1 snRNP is a component of a molecular pathway associated with motor neuron disease.
|
25735748 |
2015 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron (SMN(T)) gene.
|
10732802 |
1998 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the role of the centromeric copy of the SMN gene (SMN2) in MND remains unclear.
|
11993528 |
2002 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS.
|
9073029 |
1997 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied SMN gene in three different groups of patients with adult-onset MNDs.
|
9585359 |
1998 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases.
|
16931506 |
2006 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of the telomeric survival motor neuron 1 (SMN1) gene with retention of the centromeric SMN2 gene.
|
17318264 |
2007 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by loss of function mutations in the Survival Motor Neuron 1 (SMN1) gene and reduced expression of the SMN protein, leading to spinal motor neuron death, muscle weakness and atrophy.
|
31811660 |
2019 |
|
Motor Neuron Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The effect of the number of copies in the SMN1 and SMN2 genes - the most extensively studied susceptibility and modifying genetic factors in adult onset motor neuron diseases - as a genetic risk factor for Hirayama's disease (HirD) has never been studied.
|
17850955 |
2007 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.
|
23022481 |
2012 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene.
|
16049920 |
2005 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein.
|
23063131 |
2012 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinal muscular atrophy is an inherited motor neuron disease that results from a deficiency of the survival of motor neuron (SMN) protein.
|
23615451 |
2013 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects.
|
18332255 |
2008 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant mortality.
|
18371932 |
2008 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Senataxin also joins a group of important proteins responsible for maintaining RNA transcriptome homeostasis, including FUS, TDP-43, and SMN that can all cause familial forms of motor neuron disease (MND).
|
25725227 |
2015 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
|
25104390 |
2014 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion.
|
9748047 |
1998 |
|
Motor Neuron Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results in failure to achieve motor milestones and in death or the need for mechanical ventilation by 2 years of age.
|
29091557 |
2017 |