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humans (146) 146
spinal muscular atrophy (124) 124
index medicus (91) 91
muscular atrophy, spinal - genetics (81) 81
smn complex proteins (73) 73
nerve tissue proteins - genetics (72) 72
animals (70) 70
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mice (46) 46
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survival of motor neuron 1 protein (45) 45
survival of motor neuron 2 protein (44) 44
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biochemistry & molecular biology (41) 41
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rna-binding proteins (40) 40
nervous system diseases (39) 39
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cyclic amp response element-binding protein (37) 37
cyclic amp response element-binding protein - genetics (35) 35
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exons (34) 34
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multidisciplinary sciences (33) 33
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sma (27) 27
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muscular atrophy, spinal - metabolism (26) 26
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muscular atrophy, spinal - pathology (25) 25
nervous system (25) 25
spinal muscular atrophies of childhood - genetics (25) 25
survival of motor neuron 1 protein - genetics (25) 25
motor neurons (24) 24
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motor-neuron gene (21) 21
muscular atrophy, spinal - therapy (21) 21
survival of motor neuron 1 protein - metabolism (21) 21
survival of motor neuron 2 protein - genetics (21) 21
valproic acid increases (21) 21
gene-expression (20) 20
muscular atrophy, spinal - diagnosis (20) 20
neurology (20) 20
polymerase chain reaction (20) 20
cell biology (19) 19
child, preschool (19) 19
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muscular atrophy, spinal - drug therapy (19) 19
base sequence (18) 18
infant (18) 18
rna (18) 18
alternative splicing (17) 17
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spinal cord (17) 17
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motor-neuron protein (15) 15
nerve tissue proteins - metabolism (15) 15
pathology (15) 15
pediatrics (15) 15
rna, messenger - genetics (15) 15
smn complex proteins - metabolism (15) 15
care and treatment (14) 14
deletions (14) 14
fibroblasts - metabolism (14) 14
gene dosage (14) 14
gene therapy (14) 14
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Journal Article
Science, ISSN 0036-8075, 4/2008, Volume 320, Issue 5875, pp. 524 - 527
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e50763
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Molecular Biology Reports, ISSN 0301-4851, 4/2019, Volume 46, Issue 2, pp. 2533 - 2540
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European Journal of Human Genetics, ISSN 1018-4813, 10/2007, Volume 15, Issue 10, pp. 1054 - 1062
Journal Article
Cell, ISSN 0092-8674, 2005, Volume 122, Issue 3, pp. 379 - 391
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Journal of Medicinal Chemistry, ISSN 0022-2623, 02/2008, Volume 51, Issue 3, pp. 449 - 469
Journal Article