MeSH term
Frequency | Condition_Probility | Humans | 113 | 0.0 |
Alleles | 12 | 0.0 |
DNA/genetics | 5 | 0.0 |
Gene Dosage | 9 | 2.0 |
Gene Frequency | 3 | 0.0 |
Genetic Screening | 9 | 1.0 |
Genotype | 21 | 0.0 |
Heterozygote Detection/*methods | 3 | 5.0 |
Mutation | 22 | 0.0 |
Nerve Tissue Proteins/genetics | 13 | 4.0 |
Risk Assessment | 2 | 0.0 |
Haplotypes | 3 | 0.0 |
Muscular Atrophy, Spinal/*genetics | 31 | 48.0 |
Phenotype | 19 | 0.0 |
Adolescent | 7 | 0.0 |
Adult | 15 | 0.0 |
Age of Onset | 6 | 0.0 |
Exons/genetics | 7 | 0.0 |
Female | 34 | 0.0 |
*Gene Deletion | 18 | 2.0 |
Male | 34 | 0.0 |
Middle Aged | 8 | 0.0 |
Nerve Tissue Proteins/*genetics | 60 | 9.0 |
Animals | 31 | 0.0 |
Cells, Cultured | 10 | 0.0 |
Fibroblasts/metabolism | 4 | 0.0 |
Immunoblotting | 3 | 0.0 |
Nerve Tissue Proteins/genetics/*metabolism | 4 | 2.0 |
Nuclear Proteins/*metabolism | 3 | 0.0 |
Precipitin Tests | 4 | 0.0 |
RNA-Binding Proteins/*metabolism | 2 | 2.0 |
Research Support, Non-U.S. Gov't | 74 | 0.0 |
Transfection | 11 | 0.0 |
Child, Preschool | 8 | 0.0 |
DNA Mutational Analysis | 16 | 0.0 |
Family Health | 6 | 0.0 |
Homozygote | 17 | 0.0 |
Muscular Atrophy, Spinal/*genetics/pathology | 5 | 83.0 |
Pedigree | 15 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 24 | 0.0 |
Spinal Muscular Atrophies of Childhood/*genetics/pathology | 2 | 66.0 |
Base Sequence | 23 | 0.0 |
Gene Deletion | 14 | 0.0 |
Heterozygote | 8 | 0.0 |
*Mutation | 5 | 0.0 |
Polymerase Chain Reaction | 8 | 0.0 |
Promoter Regions (Genetics) | 3 | 0.0 |
Spain | 4 | 1.0 |
Amino Acid Motifs | 5 | 0.0 |
Cell Line | 13 | 0.0 |
*Exons | 4 | 1.0 |
Introns | 4 | 0.0 |
Models, Genetic | 6 | 0.0 |
Molecular Sequence Data | 24 | 0.0 |
Mutagenesis, Site-Directed | 3 | 0.0 |
Nerve Tissue Proteins/chemistry/*genetics | 3 | 7.0 |
Nuclear Proteins/chemistry/*genetics | 2 | 4.0 |
Point Mutation | 5 | 0.0 |
Protein Biosynthesis | 3 | 0.0 |
RNA/metabolism | 2 | 0.0 |
*RNA Splicing | 2 | 0.0 |
RNA, Messenger/metabolism | 5 | 0.0 |
Reverse Transcriptase Polymerase Chain Reaction | 17 | 0.0 |
Sequence Homology, Nucleic Acid | 4 | 0.0 |
Transcription, Genetic | 8 | 0.0 |
Ultraviolet Rays | 2 | 0.0 |
*Heterozygote Detection | 3 | 2.0 |
Incidence | 3 | 0.0 |
Alternative Splicing | 3 | 0.0 |
Binding Sites | 2 | 0.0 |
Comparative Study | 14 | 0.0 |
Enhancer Elements (Genetics)/genetics | 2 | 2.0 |
Exons | 27 | 0.0 |
Hela Cells | 10 | 0.0 |
Motor Neurons/*metabolism | 2 | 9.0 |
Muscular Atrophy, Spinal/*genetics/metabolism | 2 | 100.0 |
Nuclear Proteins/*genetics | 2 | 0.0 |
Protein Isoforms/genetics | 3 | 1.0 |
*RNA-Binding Proteins | 2 | 0.0 |
Tumor Cells, Cultured | 7 | 0.0 |
Heterozygote Detection | 6 | 1.0 |
Infant | 9 | 0.0 |
Infant, Newborn | 8 | 0.0 |
Spinal Muscular Atrophies of Childhood/*genetics | 6 | 75.0 |
Risk Factors | 3 | 0.0 |
Chromosome Mapping | 4 | 0.0 |
DNA Primers | 7 | 0.0 |
Genetic Screening/*methods | 3 | 2.0 |
Muscular Atrophy, Spinal/diagnosis/*genetics | 7 | 100.0 |
Polymorphism, Restriction Fragment Length | 5 | 0.0 |
Pregnancy | 8 | 0.0 |
Prenatal Diagnosis | 3 | 1.0 |
DNA/chemistry/genetics | 5 | 0.0 |
Child | 6 | 0.0 |
*Chromosomes, Human, Pair 5 | 4 | 1.0 |
English Abstract | 3 | 0.0 |
Gene Expression | 3 | 0.0 |
Nerve Tissue Proteins/*genetics/metabolism | 7 | 9.0 |
Mutation/genetics | 3 | 0.0 |
Polymerase Chain Reaction/*methods | 6 | 1.0 |
Prognosis | 2 | 0.0 |
Reproducibility of Results | 4 | 0.0 |
Sensitivity and Specificity | 4 | 0.0 |
Survival Analysis | 2 | 0.0 |
Time Factors | 8 | 0.0 |
Amino Acid Sequence | 10 | 0.0 |
Blotting, Western | 9 | 0.0 |
DNA Primers/chemistry | 4 | 0.0 |
Nerve Tissue Proteins/*metabolism | 4 | 1.0 |
RNA Splicing | 4 | 0.0 |
Rabbits | 2 | 0.0 |
Sequence Homology, Amino Acid | 7 | 0.0 |
Spinal Cord/metabolism | 2 | 3.0 |
Two-Hybrid System Techniques | 2 | 0.0 |
Dose-Response Relationship, Drug | 6 | 0.0 |
Fibroblasts | 2 | 0.0 |
Immunohistochemistry | 7 | 0.0 |
Mice | 18 | 0.0 |
Transcription, Genetic/drug effects | 2 | 0.0 |
Gene Expression Regulation/drug effects | 2 | 0.0 |
Muscular Atrophy, Spinal/genetics | 2 | 25.0 |
*Alternative Splicing | 4 | 0.0 |
COS Cells | 3 | 0.0 |
Exons/*genetics | 4 | 1.0 |
Mice, Transgenic | 4 | 0.0 |
RNA/genetics/metabolism | 2 | 1.0 |
Biosensing Techniques | 2 | 3.0 |
Glutathione Transferase/metabolism | 2 | 0.0 |
Microscopy, Fluorescence | 3 | 0.0 |
Protein Binding | 2 | 0.0 |
Protein Structure, Tertiary | 2 | 0.0 |
Recombinant Proteins/metabolism | 2 | 0.0 |
Heteroduplex Analysis | 2 | 2.0 |
Retrospective Studies | 2 | 0.0 |
Polymorphism, Single-Stranded Conformational | 2 | 0.0 |
Fluorescent Antibody Technique | 2 | 0.0 |
Muscular Atrophy, Spinal/*diagnosis/genetics | 3 | 100.0 |
Pregnancy Outcome | 2 | 0.0 |
Preimplantation Diagnosis/*methods | 3 | 16.0 |
Mutation/*genetics | 4 | 0.0 |
Telomere/genetics | 2 | 3.0 |
*Mutation, Missense | 2 | 0.0 |
Chromosomes, Human, Pair 5/*genetics | 2 | 2.0 |
*Gene Dosage | 4 | 4.0 |
Disease Models, Animal | 7 | 0.0 |
Rats | 6 | 0.0 |
Polymerase Chain Reaction/methods | 3 | 0.0 |
Cell Line, Transformed | 2 | 0.0 |
*Gene Duplication | 3 | 2.0 |
Polymorphism, Genetic | 2 | 0.0 |
Sequence Analysis, DNA | 3 | 0.0 |
Variation (Genetics) | 2 | 0.0 |
*Heterozygote | 2 | 0.0 |
Sequence Deletion | 3 | 0.0 |
Alternative Splicing/genetics | 2 | 1.0 |
Fibroblasts/cytology/metabolism | 2 | 1.0 |
Genes, Reporter | 2 | 0.0 |
Protein Structure, Tertiary/physiology | 2 | 1.0 |
Blotting, Southern | 2 | 0.0 |
Cloning, Molecular | 3 | 0.0 |
In Situ Hybridization, Fluorescence | 5 | 0.0 |
Protein Isoforms | 2 | 0.0 |
*Sequence Deletion | 2 | 0.0 |
Chromosomes, Human, Pair 5 | 3 | 2.0 |
RNA, Messenger/genetics | 4 | 0.0 |
Gene Therapy | 3 | 0.0 |
RNA Splicing/*genetics | 2 | 2.0 |
RNA, Messenger/genetics/metabolism | 3 | 0.0 |
RNA, Messenger/analysis | 2 | 0.0 |
Cell Nucleus/metabolism | 4 | 0.0 |
Turkey | 2 | 1.0 |
Animals, Newborn | 2 | 0.0 |
Blotting, Northern | 3 | 0.0 |
Motor Neurons/pathology | 2 | 6.0 |
Transgenes | 2 | 0.0 |
Reverse Transcriptase Polymerase Chain Reaction/methods | 2 | 0.0 |
Spinal Cord/pathology | 2 | 2.0 |
Muscular Atrophy, Spinal/*genetics/physiopathology | 2 | 100.0 |
Severity of Illness Index | 4 | 0.0 |
Genetic Counseling | 3 | 1.0 |
*Prenatal Diagnosis | 2 | 0.0 |
Disease Progression | 2 | 0.0 |
Muscular Atrophy, Spinal/*diagnosis/*genetics | 2 | 100.0 |
Genetic Screening/methods | 2 | 1.0 |
Enhancer Elements (Genetics) | 3 | 0.0 |
Plasmids/metabolism | 2 | 0.0 |
Aged | 3 | 0.0 |
Mice, Mutant Strains | 2 | 0.0 |
Gene Conversion/*genetics | 2 | 28.0 |
Spinal Muscular Atrophies of Childhood/*diagnosis/*genetics | 3 | 100.0 |
Cytoplasm/*metabolism | 2 | 1.0 |
