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European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | 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 | Index Medicus
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Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | 19 | 324 | 117 | 227 | 252
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Neuromuscular disorders : NMD, ISSN 0960-8966, 02/2018, Volume 28, Issue 2, pp. 103 - 115
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Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 71 - 71
Proximal SMA | SMN2 | motor neurons Disease names and synonyms: Spinal muscular atrophy 5q linked | SMN1 | Proximal spinal muscular atrophy | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Muscular Atrophy, Spinal - diagnosis | Humans | Prenatal Diagnosis | Child, Preschool | Muscular Atrophy, Spinal - epidemiology | Infant | Genetic Counseling | Muscular Atrophy, Spinal - genetics | Animals | Survival of Motor Neuron 1 Protein - genetics | Adult | Mice | Muscular Atrophy, Spinal - physiopathology | Infant, Newborn | Care and treatment | Genetic aspects | Diagnosis | Research | Gene therapy | Health aspects | Spinal muscular atrophy | Survival analysis | Genotype & phenotype | Weight control | Scoliosis | Rodents | Mortality | Stem cells | Classification | Index Medicus
Journal Article
Annals of neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 883 - 891
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spinal Muscular Atrophies of Childhood - genetics | Prospective Studies | Humans | Child, Preschool | Survival of Motor Neuron 2 Protein - blood | Infant | Male | Spinal Muscular Atrophies of Childhood - blood | Biomarkers - blood | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Female | Longitudinal Studies | Cohort Studies | Spinal Muscular Atrophies of Childhood - diagnosis | Survival of Motor Neuron 1 Protein - blood | Medical research | SMN protein | Mortality | Clinical trials | Muscles | Action potential | Nervous system | Infants | Infant mortality | Drug development | Motor task performance | Recruitment | Spinal muscular atrophy | Atrophy | Confidence intervals | Babies | Biomarkers | Ventilation | Death | Children | Neuromuscular system | Age | Natural history | Index Medicus | AIMS | CHOP-INTEND | TIMPSI | SMN | CMAP
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Nature reviews. Neurology, ISSN 1759-4758, 06/2015, Volume 11, Issue 6, pp. 351 - 359
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | Diagnosis, Differential | Animals | Oligonucleotides, Antisense - genetics | Humans | Muscular Atrophy, Spinal - therapy | Motor Neurons | Clinical Trials as Topic | SMN Complex Proteins - genetics | Care and treatment | Stem cells | Development and progression | Genetic aspects | Research | Health aspects | Spinal muscular atrophy | Index Medicus
Journal Article
The Journal of pediatrics, ISSN 0022-3476, 11/2017, Volume 190, pp. 124 - 129.e1
spinal muscular atrophy | recombination | real-time PCR | SMN1 | newborn screening | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Humans | Real-Time Polymerase Chain Reaction - methods | Infant | Male | Neonatal Screening - methods | Pilot Projects | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Taiwan | Female | Early Diagnosis | Infant, Newborn | Index Medicus | Abridged Index Medicus
Journal Article
Nature neuroscience, ISSN 1097-6256, 03/2017, Volume 20, Issue 4, pp. 497 - 499
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Animals | Oligonucleotides - therapeutic use | Humans | Oligonucleotides, Antisense - therapeutic use | Drug Discovery - trends | Drug Discovery - methods | Muscular Atrophy, Spinal - drug therapy | Muscular Atrophy, Spinal - physiopathology | Molecular targeted therapy | Care and treatment | Gene mutations | Innovations | Development and progression | Genetic aspects | Health aspects | Spinal muscular atrophy | Index Medicus
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