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1991, Handbook of clinical neurology, ISBN 9780444812780, Volume rev. ser., 15 = v. 59., xiii, 529
Book
Journal of Magnetic Resonance Imaging, ISSN 1053-1807, 02/2007, Volume 25, Issue 2, pp. 433 - 440
Interest in muscle MRI has been largely stimulated in the last few years by the recognition of an increasing number of genetic defects in the field of... 
dystrophies | congenital | myopathies | MRI | muscle | Muscle | Myopathies | Dystrophies | Congenital | CONGENITAL MUSCULAR-DYSTROPHY | NEMALINE MYOPATHY | ATROPHY | ABNORMALITIES | INVOLVEMENT | PHENOTYPE | SKELETAL-MUSCLE | ULTRASOUND | RIGID SPINE SYNDROME | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | SARCOGLYCAN | Muscular Atrophy, Spinal - diagnosis | Magnetic Resonance Imaging - trends | History, 21st Century | Humans | Magnetic Resonance Imaging - methods | Myopathies, Structural, Congenital - genetics | Muscular Dystrophies - genetics | Neuromuscular Diseases - pathology | Neuromuscular Diseases - genetics | Muscular Atrophy, Spinal - genetics | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Muscular Dystrophies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Muscular Dystrophy, Emery-Dreifuss - genetics | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Dystrophies - congenital | History, 20th Century | Magnetic Resonance Imaging - history | Muscular Dystrophy, Emery-Dreifuss - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Dystrophies - pathology | Muscular Atrophy, Spinal - pathology | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - genetics | Muscular Dystrophy, Duchenne - diagnosis
Journal Article
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
OBJECTIVE:To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense... 
PUNCTURE HEADACHE | ANTISENSE OLIGONUCLEOTIDE | FUNCTIONAL MOTOR SCALE | CLINICAL NEUROLOGY | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | 324 | 117 | 227 | 252
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Journal Article
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... 
SMN2 | Motor neuron | Survival motor neuron gene | SMN1 | Spinal muscular atrophy | TERM VENTILATORY SUPPORT | MUSCLE ATROPHY | SURVIVAL-MOTOR-NEURON | NATURAL-HISTORY | RESPIRATORY MANAGEMENT | NEUROSCIENCES | CLINICAL NEUROLOGY | INTRONIC REPRESSOR | MOUSE MODEL | ANIMAL-MODEL | CONSENSUS STATEMENT | NONINVASIVE VENTILATION
Journal Article
Expert Opinion on Biological Therapy, ISSN 1471-2598, 06/2014, Volume 14, Issue 6, pp. 809 - 819
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
2006, ISBN 0595414648, vi, 50
"A day by day journey with SMA. Learn about SMA. See how life can change over night. Feel the courage and strength. And much more"--Subtitles. 
Motor neurons | Spinal cord | Children with disabilities | Muscular Atrophy, Spinal | Sears, Kassidy Jade, 2003-2004 | Spinal Muscular Atrophies of Childhood | Spinal muscular atrophy | Diseases
Book
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1713 - 1722
Journal Article