| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yimin Hua, Kentaro Sahashi, Frank Rigo, Gene Hung, Guy Horev, C Frank Bennett, Adrian R Kraine. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. vol 478. issue 7367. 2012-01-25. PMID:21979052. |
spinal muscular atrophy (sma) is a motor neuron disease and the leading genetic cause of infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (smn1) gene. |
2012-01-25 |
2023-08-12 |
mouse |
| Claudia Castiglioni, Jorge Levicán, Eliana Rodillo, María Angélica Garmendia, Alejandra Díaz, Lorena Pizarro, Luis Contrera. [Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy]. Revista medica de Chile. vol 139. issue 2. 2012-01-20. PMID:21773657. |
spinal muscular atrophy (sma) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (smn1) gene. |
2012-01-20 |
2023-08-12 |
Not clear |
| Pablo Mier, Antonio J Pérez-Pulid. Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy. Gene. vol 491. issue 2. 2012-01-18. PMID:22020225. |
spinal muscular atrophy is an important rare genetic disease characterized by the loss of motor neurons, where the main gene responsible is smn1. |
2012-01-18 |
2023-08-12 |
Not clear |
| Thanh T Le, Vicki L McGovern, Isaac E Alwine, Xueyong Wang, Aurelie Massoni-Laporte, Mark M Rich, Arthur H M Burghe. Temporal requirement for high SMN expression in SMA mice. Human molecular genetics. vol 20. issue 18. 2012-01-17. PMID:21672919. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron 1 gene (smn1) and retention of the smn2 gene, resulting in reduced smn. |
2012-01-17 |
2023-08-12 |
mouse |
| Eva Also-Rallo, Laura Alías, Rebeca Martínez-Hernández, Lidia Caselles, María J Barceló, Montserrat Baiget, Sara Bernal, Eduardo F Tizzan. Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. European journal of human genetics : EJHG. vol 19. issue 10. 2012-01-11. PMID:21610752. |
spinal muscular atrophy (sma) is a genetic neuromuscular disorder caused by mutations in the smn1 gene. |
2012-01-11 |
2023-08-12 |
Not clear |
| Jeffrey M Dale, Hailian Shen, Devin M Barry, Virginia B Garcia, Ferrill F Rose, Christian L Lorson, Michael L Garci. The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations. Acta neuropathologica. vol 122. issue 3. 2012-01-10. PMID:21681521. |
spinal muscular atrophy (sma) is a neurodegenerative disease resulting from decreased levels of survival motor neuron 1 (smn1) protein. |
2012-01-10 |
2023-08-12 |
mouse |
| Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish, Corey Braasta. Technical standards and guidelines for spinal muscular atrophy testing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 7. 2011-12-13. PMID:21673580. |
spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2011-12-13 |
2023-08-12 |
Not clear |
| Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish, Corey Braasta. Technical standards and guidelines for spinal muscular atrophy testing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 7. 2011-12-13. PMID:21673580. |
the homozygous absence of the smn1 exon 7 has been observed in the majority of patients and is being used as a reliable and sensitive spinal muscular atrophy diagnostic test. |
2011-12-13 |
2023-08-12 |
Not clear |
| Thomas W Prio. Spinal muscular atrophy: a time for screening. Current opinion in pediatrics. vol 22. issue 6. 2011-11-09. PMID:20829691. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2011-11-09 |
2023-08-12 |
Not clear |
| James N Sleigh, Thomas H Gillingwater, Kevin Talbo. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Disease models & mechanisms. vol 4. issue 4. 2011-11-09. PMID:21708901. |
spinal muscular atrophy (sma), which is caused by inactivating mutations in the survival motor neuron 1 (smn1) gene, is characterized by loss of lower motor neurons in the spinal cord. |
2011-11-09 |
2023-08-12 |
mouse |
| Jingbo Xiao, Juan J Marugan, Wei Zheng, Steve Titus, Noel Southall, Jonathan J Cherry, Matthew Evans, Elliot J Androphy, Christopher P Austi. Discovery, synthesis, and biological evaluation of novel SMN protein modulators. Journal of medicinal chemistry. vol 54. issue 18. 2011-11-09. PMID:21819082. |
spinal muscular atrophy (sma) is an autosomal recessive disorder affecting the expression or function of survival motor neuron protein (smn) due to the homozygous deletion or rare point mutations in the survival motor neuron gene 1 (smn1). |
2011-11-09 |
2023-08-12 |
human |
| Sara Bernal, Eva Also-Rallo, Rebeca Martínez-Hernández, Laura Alías, Francisco Javier Rodríguez-Alvarez, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscular disorders : NMD. vol 21. issue 6. 2011-09-30. PMID:21546251. |
spinal muscular atrophy (sma) is caused by loss or mutations of the survival motor neuron 1 gene (smn1). |
2011-09-30 |
2023-08-12 |
Not clear |
| Qun Zhong, Smiti Bhattacharya, Steven Kotsopoulos, Jeff Olson, Valérie Taly, Andrew D Griffiths, Darren R Link, Jonathan W Larso. Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR. Lab on a chip. vol 11. issue 13. 2011-09-30. PMID:21584334. |
a 5-plex assay for spinal muscular atrophy was demonstrated with just two fluorophores to simultaneously measure the copy number of two genes (smn1 and smn2) and to genotype a single nucleotide polymorphism (c.815a>g, smn1). |
2011-09-30 |
2023-08-12 |
Not clear |
| Bikem Akten, Min Jeong Kye, Le T Hao, Mary H Wertz, Sasha Singh, Duyu Nie, Jia Huang, Tanuja T Merianda, Jeffery L Twiss, Christine E Beattie, Judith A J Steen, Mustafa Sahi. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. Proceedings of the National Academy of Sciences of the United States of America. vol 108. issue 25. 2011-09-29. PMID:21652774. |
spinal muscular atrophy (sma), caused by the deletion of the smn1 gene, is the leading genetic cause of infant mortality. |
2011-09-29 |
2023-08-12 |
zebrafish |
| Galina Yu Zheleznyakova, Anton V Kiselev, Viktor G Vakharlovsky, Mathias Rask-Andersen, Rohit Chavan, Anna A Egorova, Helgi B Schiöth, Vladislav S Barano. Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. BMC medical genetics. vol 12. 2011-09-27. PMID:21762474. |
spinal muscular atrophy (sma type i, ii and iii) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (smn1). |
2011-09-27 |
2023-08-12 |
Not clear |
| Teguh Haryo Sasongko, Gunadi, Bin Alwi Zilfalil, Zamh Zabidi-Hussi. Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy. Journal of neurogenetics. vol 25. issue 1-2. 2011-09-08. PMID:21338334. |
deletion analysis of smn1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy. |
2011-09-08 |
2023-08-12 |
Not clear |
| Marco A Passini, Seng H Chen. Prospects for the gene therapy of spinal muscular atrophy. Trends in molecular medicine. vol 17. issue 5. 2011-08-30. PMID:21334976. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a deficiency of functional smn protein because of mutations in smn1. |
2011-08-30 |
2023-08-12 |
Not clear |
| Stuart J Grice, Ji-Long Li. Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila. PLoS genetics. vol 7. issue 4. 2011-08-18. PMID:21490958. |
spinal muscular atrophy is a severe neurogenic disease that is caused by mutations in the human survival motor neuron 1 (smn1) gene. |
2011-08-18 |
2023-08-12 |
human |
| Marta Bosch-Marcé, Claribel D Wee, Tara L Martinez, Celeste E Lipkes, Dong W Choe, Lingling Kong, James P Van Meerbeke, Antonio Musarò, Charlotte J Sumne. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Human molecular genetics. vol 20. issue 9. 2011-08-15. PMID:21325354. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (smn1) gene and deficiency of the smn protein. |
2011-08-15 |
2023-08-12 |
mouse |
| Chia-Yen Wu, Dosh Whye, Lisa Glazewski, Leila Choe, Douglas Kerr, Kelvin H Lee, Robert W Mason, Wenlan Wan. Proteomic assessment of a cell model of spinal muscular atrophy. BMC neuroscience. vol 12. 2011-06-21. PMID:21385431. |
deletion or mutation(s) of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. |
2011-06-21 |
2023-08-12 |
mouse |