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1991, Handbook of clinical neurology, ISBN 9780444812780, Volume rev. ser., 15 = v. 59., xiii, 529
Book
Neurologic clinics, ISSN 0733-8619, 11/2015, Volume 33, Issue 4, pp. 831 - 846
Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1... 
SMN2 | Motor neuron | Survival motor neuron gene | SMN1 | Spinal muscular atrophy
Journal Article
Annals of neurology, ISSN 1531-8249, 12/2017, Volume 82, Issue 6, pp. 883 - 891
Journal Article
Journal Article
The New England journal of medicine, ISSN 1533-4406, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
In this phase 3 trial, among infants with spinal muscular atrophy, those who received nusinersen were more likely to achieve major motor milestones and less likely to need permanent assisted... 
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Injections, Spinal | Spinal Muscular Atrophies of Childhood - genetics | Double-Blind Method | Oligonucleotides - therapeutic use | Humans | Spinal Muscular Atrophies of Childhood - drug therapy | Infant | Male | Oligonucleotides - adverse effects | Oligonucleotides, Antisense - adverse effects | RNA, Messenger - metabolism | Survival of Motor Neuron 2 Protein - metabolism | Respiration, Artificial | Disease-Free Survival | Oligonucleotides, Antisense - therapeutic use | Survival of Motor Neuron 2 Protein - genetics | Age of Onset | Survival Analysis | Female | Spinal Muscular Atrophies of Childhood - mortality | Spinal Muscular Atrophies of Childhood - physiopathology | Motor Skills | RNA, Messenger - drug effects | Care and treatment | Usage | Surgery | Patient outcomes | Motor ability | Analysis | Spinal muscular atrophy | Pediatrics | Neuromuscular diseases | Cell survival | Splicing | Neurons | SMN protein | Antisense oligonucleotides | mRNA | Infants | Motor task performance | Hereditary diseases | Children & youth | Babies | Proteins | Neurology | Ventilation | Death | Mutation | Drug therapy | Drug dosages | Age | Index Medicus | Abridged Index Medicus | trials | Pediatrik
Journal Article
The New England journal of medicine, ISSN 1533-4406, 11/2017, Volume 377, Issue 18, pp. 1713 - 1722
Journal Article