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2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
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
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2018, Volume 89, Issue 1, pp. 72 - 77
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 12/2010, Volume 25, Issue 12, pp. 1559 - 1581
Journal Article
Developmental Neurorehabilitation, ISSN 1363-8491, 2006, Volume 9, Issue 4, pp. 351 - 364
Journal Article
Journal Article