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index medicus (220) 220
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spinal muscular atrophy (183) 183
smn2 (122) 122
muscular atrophy, spinal - genetics (117) 117
survival of motor neuron 1 protein - genetics (88) 88
sma (83) 83
survival of motor neuron 2 protein - genetics (80) 80
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muscular atrophy, spinal - pathology (34) 34
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muscular atrophy, spinal - therapy (31) 31
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alternative splicing (23) 23
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BIOCELL, ISSN 0327-9545, 2018, Volume 42, Issue 3, pp. 87 - 91
Spinal muscular atrophy (SMA) is caused by dysfunction of the alpha motor neurons of the spinal cord. It is an autosomal recessive disease associated to the... 
DIAGNOSIS | MANAGEMENT | PROTEIN | MLPA | SMA | Paralog gene | BIOLOGY | SMN2 | CNV | DUPLICATION | MUSCULAR-ATROPHY | DELETIONS
Journal Article
Journal Article
Journal Article
Brain & Development, ISSN 0387-7604, 2013, Volume 36, Issue 10, pp. 914 - 920
Journal Article
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2015, Volume 3, Issue 4, pp. 248 - 257
Proximal spinal muscular atrophy ( SMA ) is an early‐onset motor neuron disease characterized by loss of α ‐motor neurons and associated muscle atrophy. SMA is... 
SMN2 | spinal muscular atrophy | Array digital PCR | SMN1 | copy number variation | copy number | GENETICS & HEREDITY | Amyotrophic lateral sclerosis | Genes | Rodents | Method
Journal Article
Diagnostic Molecular Pathology, ISSN 1052-9551, 09/2012, Volume 21, Issue 3, pp. 172 - 175
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2018, Volume 28, Issue 2, pp. 103 - 115
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 ( ) gene. Its incidence is approximately 1 in... 
Diagnosis | Nutrition | Orthopedic | Care | Phisotherapy | Spinal muscular atrophy | PHENOTYPIC VARIABILITY | EARLY-ONSET SCOLIOSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | NEUROMUSCULAR SCOLIOSIS | MOTOR-NEURON GENE | GLUCOSE-METABOLISM | CLINICAL-TRIALS | OPERATIVE TREATMENT | CONTROLLED GROWING RODS | CONSENSUS STATEMENT | SMN2 COPY NUMBER | Care and treatment
Journal Article