| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tatiana O Gavrilina, Vicki L McGovern, Eileen Workman, Thomas O Crawford, Rocky G Gogliotti, Christine J DiDonato, Umrao R Monani, Glenn E Morris, Arthur H M Burghe. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Human molecular genetics. vol 17. issue 8. 2008-04-21. PMID:18178576. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron gene (smn1) and retention of the smn2 gene. |
2008-04-21 |
2023-08-12 |
mouse |
| Leonie A Menke, Bwee Tien Poll-The, Sally-Ann Clur, Catia M Bilardo, Allard C van der Wal, Henny H Lemmink, Jan Maarten Cobbe. Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. American journal of medical genetics. Part A. vol 146A. issue 6. 2008-04-16. PMID:18266240. |
spinal muscular atrophy type i (sma i) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (smn1). |
2008-04-16 |
2023-08-12 |
Not clear |
| Darlise DiMatteo, Stephanie Callahan, Eric B Kmie. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Experimental cell research. vol 314. issue 4. 2008-04-07. PMID:18078930. |
genetic conversion of an smn2 gene to smn1: a novel approach to the treatment of spinal muscular atrophy. |
2008-04-07 |
2023-08-12 |
human |
| Darlise DiMatteo, Stephanie Callahan, Eric B Kmie. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Experimental cell research. vol 314. issue 4. 2008-04-07. PMID:18078930. |
spinal muscular atrophy (sma), a recessive, neuromuscular disease, is caused by a mutation or deletion in the smn1 gene. |
2008-04-07 |
2023-08-12 |
human |
| Ilsa Gómez-Curet, Karyn G Robinson, Vicky L Funanage, Thomas O Crawford, Mena Scavina, Wenlan Wan. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. vol 8. issue 4. 2008-04-03. PMID:17647030. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (smn1). |
2008-04-03 |
2023-08-12 |
human |
| Tsuyoshi Kashima, Nishta Rao, Charles J David, James L Manle. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Human molecular genetics. vol 16. issue 24. 2008-03-14. PMID:17884807. |
homozygous deletion or mutation of the survival of motor neuron 1 gene (smn1) causes spinal muscular atrophy. |
2008-03-14 |
2023-08-12 |
Not clear |
| Chung-Yee Yuo, Hui-Hua Lin, Ya-Sian Chang, Wen-Kuang Yang, Jan-Gowth Chan. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Annals of neurology. vol 63. issue 1. 2008-03-12. PMID:17924536. |
spinal muscular atrophy (sma) is a common inherited neuromuscular disorder caused by homozygous loss of function of the survival motor neuron 1 (smn1) gene. |
2008-03-12 |
2023-08-12 |
Not clear |
| C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, C Brah. Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. Journal of medical genetics. vol 45. issue 1. 2008-01-22. PMID:17932121. |
spinal muscular atrophy (sma) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (smn1). |
2008-01-22 |
2023-08-12 |
Not clear |
| Tie Zou, Raju Ilangovan, Furong Yu, Zuoshang Xu, Jianhua Zho. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochemical and biophysical research communications. vol 364. issue 4. 2007-12-18. PMID:17964281. |
deletion or mutation of the survival of motor neuron (smn1) gene causes spinal muscular atrophy (sma), a motor neuron degenerative disease. |
2007-12-18 |
2023-08-12 |
mouse |
| Jérémie Vitte, Coralie Fassier, Francesco D Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier-Veber, Jean Paul Bonnefont, Judith Melk. Refined characterization of the expression and stability of the SMN gene products. The American journal of pathology. vol 171. issue 4. 2007-11-26. PMID:17717146. |
spinal muscular atrophy (sma) is characterized by degeneration of lower motor neurons and caused by mutations of the smn1 gene. |
2007-11-26 |
2023-08-12 |
human |
| Laura Alias, Maria J Barceló, Ignasi Gich, Marta Estapé, Juan Parra, Maria Amenedo, Montserrat Baiget, Eduardo F Tizzan. Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy. European journal of human genetics : EJHG. vol 15. issue 10. 2007-11-21. PMID:17625510. |
evidence of a segregation ratio distortion of smn1 alleles in spinal muscular atrophy. |
2007-11-21 |
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. |
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 |