|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Aims:</b> To estimate healthcare resource utilization (HRU) and costs among patients with spinal muscular atrophy (SMA) type 1 (SMA1) in real-world practice, overall and among patients treated with nusinersen.
|
31322019 |
2020 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> 5q spinal muscular atrophy (SMA) is an autosomal recessive lower motoneuron disease caused by deletion or mutations in the survival motor neuron 1 gene (<i>SMN1</i>) which results in reduced expression of full-length SMN protein.
|
31736847 |
2019 |
|
Spinal Muscular Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<i>PLS3</i> coadministration improves the phenotype beyond the ASO, demonstrating the potential utility of combinatorial therapeutics in SMA that target SMN-independent and SMN-dependent pathways.
|
28289706 |
2017 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
1634-1644) show that ASOs directed against an intron splice silencer (ISS) in the survival motor neuron 2 (SMN2) gene alter the amount of full-length SMN transcript in the nervous system, restoring SMN to levels that could correct spinal muscular atrophy (SMA).
|
20679391 |
2010 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation.
|
10234506 |
1999 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene.
|
10369885 |
1999 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is attributed to mutations in the SMN1 gene, leading to loss of spinal cord motor neurons.
|
11078511 |
2000 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of the survival motor neuron gene (SMN1) but not mutations in the centromeric copy (SMN2).
|
11085591 |
2000 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations of the survival motor neuron gene 1 (SMN1).
|
11153908 |
2000 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SMA is caused by mutations in SMN1 but not SMN2.
|
11274309 |
2001 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a degenerative motor neuron disorder resulting from homozygous loss of the SMN1 gene.
|
11704813 |
2001 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA), the most common hereditary motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (SMN1) gene.
|
11773003 |
2002 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype.
|
12220455 |
2002 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a recessive autosomal disorder characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron gene (SMN1).No curative treatment is known so far.
|
12761038 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene.
|
12768044 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a relatively common neurodegenerative disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene.
|
12833158 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 (survival motor neuron) gene.
|
12872254 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
SMA is caused by low levels of the ubiquitously expressed survival motor neuron (Smn) protein.
|
12952942 |
2003 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found.
|
15459957 |
2004 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found.
|
15459957 |
2004 |
|
Spinal Muscular Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein.
|
16204184 |
2005 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a common inherited and fatal neuromuscular disease caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes SMN1 and SMN2.
|
16439605 |
2006 |
|
Spinal Muscular Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the SMN1 gene.
|
16508748 |
2006 |