All Relations between Muscular Atrophy and smn1
| Publication | Sentence | Publish Date | Extraction Date | Species |
|---|---|---|---|---|
| C L Lorson, E Hahnen, E J Androphy, B Wirt. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 96. issue 11. 1999-06-24. PMID:10339583. | a critical question is why only the homozygous loss of smn1, and not smn2, results in spinal muscular atrophy (sma). | 1999-06-24 | 2023-08-12 | Not clear |
| C Ravard-Goulvestre, C Boucly, B Mathieu, G Van Amerongen, L Viollet, B Estournet, A Barois, P de Mazancour. Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy. Clinical chemistry and laboratory medicine. vol 37. issue 2. 1999-06-21. PMID:10219501. | the smn1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal muscular atrophies. | 1999-06-21 | 2023-08-12 | Not clear |
| B Wirth, M Herz, A Wetter, S Moskau, E Hahnen, S Rudnik-Schöneborn, T Wienker, K Zerre. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. American journal of human genetics. vol 64. issue 5. 1999-05-20. PMID:10205265. | problems with diagnosis and genetic counseling occur for patients with autosomal recessive proximal spinal muscular atrophy (sma) who do not show the most common mutation: homozygous absence of at least exon 7 of the telomeric survival motor neuron gene (smn1). | 1999-05-20 | 2023-08-12 | Not clear |
| A G Mater. RNA splicing: more clues from spinal muscular atrophy. Current biology : CB. vol 9. issue 4. 1999-04-22. PMID:10074419. | spinal muscular atrophy is caused by mutations in the smn1 gene, the product of which is part of a multi-component complex involved in the assembly of small nuclear ribonucleoproteins. | 1999-04-22 | 2023-08-12 | Not clear |