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1991, Handbook of clinical neurology, ISBN 9780444812780, Volume rev. ser., 15 = v. 59., xiii, 529
Book
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 survival motor neuron 1 gene, SMN1... 
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
European journal of human genetics : EJHG, ISSN 1476-5438, 2011, Volume 20, Issue 1, pp. 27 - 32
Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of similar to 1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder... 
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | COPIES | DEPENDENT PROBE AMPLIFICATION | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | IDENTIFICATION | QUANTITATIVE-ANALYSIS | COPY NUMBER | GENETICS & HEREDITY | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis
Journal Article
Neurology, ISSN 0028-3878, 10/2019, Volume 93, Issue 14, pp. 613 - 614
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2017, Volume 377, Issue 18, pp. 1713 - 1722
Journal Article
Annals of neurology, ISSN 1531-8249, 2017, Volume 82, Issue 6, pp. 883 - 891
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2018, Volume 378, Issue 7, pp. 625 - 635
Journal Article