| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Thomas W Prio. Spinal muscular atrophy diagnostics. Journal of child neurology. vol 22. issue 8. 2007-11-08. PMID:17761649. |
spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (smn), which exists in 2 nearly identical copies (smn1 and smn2). |
2007-11-08 |
2023-08-12 |
Not clear |
| Thomas W Prio. Spinal muscular atrophy diagnostics. Journal of child neurology. vol 22. issue 8. 2007-11-08. PMID:17761649. |
exon 7 of smn1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of smn2 does not cause spinal muscular atrophy. |
2007-11-08 |
2023-08-12 |
Not clear |
| Thomas W Prio. Spinal muscular atrophy diagnostics. Journal of child neurology. vol 22. issue 8. 2007-11-08. PMID:17761649. |
smn1 dosage testing can be used to determine the smn1 copy number and to detect spinal muscular atrophy carriers and affected compound heterozygotes. |
2007-11-08 |
2023-08-12 |
Not clear |
| Charlotte J Sumne. Molecular mechanisms of spinal muscular atrophy. Journal of child neurology. vol 22. issue 8. 2007-11-08. PMID:17761653. |
genetic studies revealed that spinal muscular atrophy is caused by mutation of the telomeric copy of the survival motor neuron gene ( smn1), with all patients retaining at least one copy of the centromeric form of the gene, smn2. |
2007-11-08 |
2023-08-12 |
Not clear |
| Christopher R Heier, Rocky G Gogliotti, Christine J DiDonat. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy? Journal of child neurology. vol 22. issue 8. 2007-11-08. PMID:17761657. |
proximal spinal muscular atrophy is caused by deletion or mutation of the survival motor neuron 1 gene, smn1. |
2007-11-08 |
2023-08-12 |
Not clear |
| Tomohiro Kotani, Retno Sutomo, Teguh Haryo Sasongko, Ahmad Hamim Sadewa, Gunadi, Toshinori Minato, Emiko Fujii, Shoichi Endo, Myeong Jin Lee, Hitoshi Ayaki, Yosuke Harada, Masafumi Matsuo, Hisahide Nishi. A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins. Journal of neurology. vol 254. issue 5. 2007-10-12. PMID:17415510. |
although most patients with spinal muscular atrophy (sma) are homozygous for deletion of the smn1 gene, some patients bear one smn1 copy with a subtle mutation. |
2007-10-12 |
2023-08-12 |
Not clear |
| Julien Marquis, Kathrin Meyer, Larissa Angehrn, Sacha S Kämpfer, Barbara Rothen-Rutishauser, Daniel Schümperl. Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Molecular therapy : the journal of the American Society of Gene Therapy. vol 15. issue 8. 2007-09-26. PMID:17505471. |
spinal muscular atrophy (sma) is a lethal hereditary disease caused by homozygous deletion/inactivation of the survival of motoneuron 1 (smn1) gene. |
2007-09-26 |
2023-08-12 |
Not clear |
| Tristan H Coady, Monir Shababi, Gregory E Tullis, Christian L Lorso. Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Molecular therapy : the journal of the American Society of Gene Therapy. vol 15. issue 8. 2007-09-26. PMID:17551501. |
spinal muscular atrophy (sma) is caused by loss of survival motor neuron-1 (smn1). |
2007-09-26 |
2023-08-12 |
Not clear |
| M L Essawi, L K Effat, G M L Shanab, G M M Al-Ettribi, A A El-Haronui, A M Kari. Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. Bratislavske lekarske listy. vol 108. issue 3. 2007-09-21. PMID:17682539. |
molecular analysis of smn1 and naip genes in egyptian patients with spinal muscular atrophy. |
2007-09-21 |
2023-08-12 |
Not clear |
| S Voutoufianakis, S Psoni, P Vorgia, F Tsekoura, K Kekou, J Traeger-Synodinos, S Kitsiou, E Kanavakis, H Fryssir. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 11. issue 4. 2007-09-05. PMID:17276711. |
coinheritance of mutated smn1 and mecp2 genes in a child with phenotypic features of spinal muscular atrophy (sma) type ii and rett syndrome. |
2007-09-05 |
2023-08-12 |
Not clear |
| b' Eva Zapletalov\\xc3\\xa1, Petra Hedvic\\xc3\\xa1kov\\xc3\\xa1, Libor Koz\\xc3\\xa1k, Petr Vondr\\xc3\\xa1cek, Renata Gaillyov\\xc3\\xa1, Tat\'\\xc3\\xa1na Mar\\xc3\\xadkov\\xc3\\xa1, Zdenek Kalina, Vera J\\xc3\\xbcttnerov\\xc3\\xa1, Jir\\xc3\\xad Fajkus, Lenka Fajkusov\\xc3\\xa. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscular disorders : NMD. vol 17. issue 6. 2007-07-26. PMID:17475491.' |
spinal muscular atrophy (sma) is caused by homozygous deletion of the smn1 gene in approximately 96% of cases. |
2007-07-26 |
2023-08-12 |
Not clear |
| Melanie Smith, Vanessa Calabro, Belinda Chong, Nicole Gardiner, Shannon Cowie, Desirée du Sar. Population screening and cascade testing for carriers of SMA. European journal of human genetics : EJHG. vol 15. issue 7. 2007-07-24. PMID:17392705. |
spinal muscular atrophy (sma) is one of the most common autosomal-recessive diseases, caused by absence of both copies of the survival motor neuron 1 (smn1) gene. |
2007-07-24 |
2023-08-12 |
Not clear |
| Ravindra N Sing. Evolving concepts on human SMN pre-mRNA splicing. RNA biology. vol 4. issue 1. 2007-07-23. PMID:17592254. |
deletion of smn1 coupled with the inability of smn2 to compensate for the loss of smn1 leads to spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2007-07-23 |
2023-08-12 |
human |
| Tsuyoshi Kashima, Nishta Rao, James L Manle. An intronic element contributes to splicing repression in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 9. 2007-06-13. PMID:17307868. |
the neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (smn1) gene. |
2007-06-13 |
2023-08-12 |
Not clear |
| Amy M Avila, Barrington G Burnett, Addis A Taye, Francesca Gabanella, Melanie A Knight, Parvana Hartenstein, Ziga Cizman, Nicholas A Di Prospero, Livio Pellizzoni, Kenneth H Fischbeck, Charlotte J Sumne. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of clinical investigation. vol 117. issue 3. 2007-05-04. PMID:17318264. |
the inherited motor neuron disease spinal muscular atrophy (sma) is caused by mutation of the telomeric survival motor neuron 1 (smn1) gene with retention of the centromeric smn2 gene. |
2007-05-04 |
2023-08-12 |
mouse |
| T K Rajendra, Graydon B Gonsalvez, Michael P Walker, Karl B Shpargel, Helen K Salz, A Gregory Mater. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. The Journal of cell biology. vol 176. issue 6. 2007-05-03. PMID:17353360. |
mutations in human survival motor neurons 1 (smn1) cause spinal muscular atrophy (sma) and are associated with defects in assembly of small nuclear ribonucleoproteins (snrnps) in vitro. |
2007-05-03 |
2023-08-12 |
mouse |
| Ahmad Hamim Sadewa, Yosuke Harada, Teguh Haryo Sasongko, Masafumi Matsuo, Hisahide Nishi. C117T variant in the SMN1 gene found in the Japanese population. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250497. |
the smn genes are closely related to the development of spinal muscular atrophy (sma); mutated smn1 causes sma and functional smn2 modifies the severity of sma. |
2007-03-27 |
2023-08-12 |
Not clear |
| Mohd S Watihayati, Azhar M H Zabidi-Hussin, Thean H Tang, Masafumi Matsuo, Hisahide Nishio, Bin Alwi Zilfali. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250498. |
deletion analyses of smn1 and naip genes in malaysian spinal muscular atrophy patients. |
2007-03-27 |
2023-08-12 |
Not clear |
| Mohd S Watihayati, Azhar M H Zabidi-Hussin, Thean H Tang, Masafumi Matsuo, Hisahide Nishio, Bin Alwi Zilfali. Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatrics international : official journal of the Japan Pediatric Society. vol 49. issue 1. 2007-03-27. PMID:17250498. |
the survival motor neuron 1 (smn1) gene has been recognized to be responsible for spinal muscular atrophy (sma) because it is homozygously deleted in more than 90% of sma patients, irrespective of their clinical severity, whereas the neuronal apoptosis inhibitory protein (naip) gene is now considered to be a modifying factor of the severity of sma. |
2007-03-27 |
2023-08-12 |
Not clear |
| Veronica Setola, Mineko Terao, Denise Locatelli, Stefania Bassanini, Enrico Garattini, Giorgio Battagli. Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 6. 2007-03-22. PMID:17261814. |
spinal muscular atrophy (sma) is an autosomal recessive disease of childhood due to loss of the telomeric survival motor neuron gene, smn1. |
2007-03-22 |
2023-08-12 |
Not clear |