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spinal muscular atrophy (36) 36
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Medicina Clinica, ISSN 0025-7753, 10/2018, Volume 151, Issue 7, pp. 275 - 277
Journal Article
Medicina Clinica, ISSN 0025-7753, 07/2017, Volume 149, Issue 2, pp. 75 - 77
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 797 - 19
Journal Article
Medicina Clínica, ISSN 0025-7753, 2017, Volume 149, Issue 2, pp. 75 - 77
Journal Article
The Journal of Pathology, ISSN 0022-3417, 01/2013, Volume 229, Issue 1, pp. 49 - 61
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2019, Volume 86, Issue 3, pp. 458 - 462
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first... 
Neuroimaging | Atrophy | Brain | Phenotypes | Magnetic resonance imaging | Abnormalities | SMN protein | Spinal muscular atrophy | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1554 - 1557
Spinal muscular atrophy (SMA) is caused by deletions/mutations in SMN1. Most heterozygous SMA carriers have only one SMN1 copy in one of the alleles (1/0... 
SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | Hybrids | Chromosome rearrangements | Chromosomes | Genetic counselling | SMN protein | Spinal muscular atrophy | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1059 - 1065
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene. The homologous copy (SMN2) is always present in SMA... 
hydroxyurea | valproic acid | phenylbutyrate | SMN | SMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | VALPROIC ACID INCREASES | SINGLE NUCLEOTIDE | MOTOR-NEURON GENE | PROTEIN-LEVELS | IN-VITRO | MESSENGER-RNA | GENETICS & HEREDITY | DOUBLE-BLIND | PLACEBO-CONTROLLED TRIAL | HISTONE DEACETYLASE INHIBITORS | Hydroxyurea - pharmacology | Frameshift Mutation | Humans | Male | Survival of Motor Neuron 2 Protein - metabolism | Valproic Acid - pharmacology | Muscular Atrophy, Spinal - genetics | Lymphocytes - virology | Survival of Motor Neuron 2 Protein - drug effects | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Phenylbutyrates - pharmacology | Female | Drug Resistance | Fibroblasts - metabolism | Siblings | Lymphocytes - metabolism | Cells, Cultured | Treatment Outcome | Gene Dosage | Survival of Motor Neuron 1 Protein - metabolism | Gene Expression Regulation - drug effects | Survival of Motor Neuron 1 Protein - drug effects | Up-Regulation - drug effects | Fibroblasts - drug effects | Lymphocytes - drug effects | Muscular Atrophy, Spinal - drug therapy | Cell Line, Transformed | Drugs | Lymphoblasts | SMN protein | Clinical trials | Hydroxyurea | Gene expression | Valproic acid | Patients | Spinal muscular atrophy | Proteins | Cell lines | Cell cycle | DNA methylation | Fibroblasts | Genetics | Skin | Mutation | Phenylbutyric acid | Genotypes | Index Medicus
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