| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Monica Nizzardo, Chiara Simone, Sabrina Salani, Marc-David Ruepp, Federica Rizzo, Margherita Ruggieri, Chiara Zanetta, Simona Brajkovic, Hong M Moulton, Oliver Müehlemann, Nereo Bresolin, Giacomo P Comi, Stefania Cort. Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype. Clinical therapeutics. vol 36. issue 3. 2016-02-15. PMID:24636820. |
spinal muscular atrophy (sma) is a fatal motor neuron disease of childhood that is caused by mutations in the smn1 gene. |
2016-02-15 |
2023-08-12 |
mouse |
| Yu-Chia Chen, Jan-Gowth Chang, Yuh-Jyh Jong, Ting-Yuan Liu, Chung-Yee Yu. High expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice. PloS one. vol 10. issue 3. 2016-02-04. PMID:25781985. |
spinal muscular atrophy (sma) is an inherited neuromuscular disease caused by deletion or mutation of smn1 gene. |
2016-02-04 |
2023-08-13 |
mouse |
| Vittoria Pagliarini, Laura Pelosi, Maria Blaire Bustamante, Annalisa Nobili, Maria Grazia Berardinelli, Marcello D'Amelio, Antonio Musarò, Claudio Sett. SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy. The Journal of cell biology. vol 211. issue 1. 2016-02-02. PMID:26438828. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the smn1 gene. |
2016-02-02 |
2023-08-13 |
mouse |
| b' Marija Zarkov, Aleksandra Stojadinovi\\xc4\\x87, Slobodan Sekuli\\xc4\\x87, Iva Barjaktarovi\\xc4\\x87, Stojan Peri\\xc4\\x87, Goran Kekovi\\xc4\\x87, Biljana Draskovi\\xc4\\x87, Zorica Stevi\\xc4\\x8. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene. Vojnosanitetski pregled. vol 72. issue 10. 2016-01-14. PMID:26665550.' |
association between the smn2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the smn1 gene. |
2016-01-14 |
2023-08-13 |
Not clear |
| Michiko Yoshida, Shiho Kitaoka, Naohiro Egawa, Mayu Yamane, Ryunosuke Ikeda, Kayoko Tsukita, Naoki Amano, Akira Watanabe, Masafumi Morimoto, Jun Takahashi, Hajime Hosoi, Tatsutoshi Nakahata, Haruhisa Inoue, Megumu K Sait. Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs. Stem cell reports. vol 4. issue 4. 2016-01-06. PMID:25801509. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (smn1) gene. |
2016-01-06 |
2023-08-13 |
Not clear |
| Sean G Mack, Daniel J Cook, Prasad Dhurjati, Matthew E R Butchbac. Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy. PloS one. vol 9. issue 12. 2016-01-04. PMID:25514431. |
spinal muscular atrophy (sma), a leading genetic cause of infant death worldwide, is an autosomal recessive disorder caused by the loss of smn1 (survival motor neuron 1), which encodes the protein smn. |
2016-01-04 |
2023-08-13 |
Not clear |
| Hamid Ganji, Nayereh Nouri, Mansoor Salehi, Omid Aryani, Massoud Houshmand, Keivan Basiri, Esmat Fazel-Najafabadi, Maryam Sedgh. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. Journal of child neurology. vol 30. issue 5. 2015-12-29. PMID:24563475. |
detection of intragenic smn1 mutations in spinal muscular atrophy patients with a single copy of smn1. |
2015-12-29 |
2023-08-12 |
Not clear |
| Hamid Ganji, Nayereh Nouri, Mansoor Salehi, Omid Aryani, Massoud Houshmand, Keivan Basiri, Esmat Fazel-Najafabadi, Maryam Sedgh. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. Journal of child neurology. vol 30. issue 5. 2015-12-29. PMID:24563475. |
homozygous deletions in the smn1 have been reported in more than 90% of spinal muscular atrophy cases. |
2015-12-29 |
2023-08-12 |
Not clear |
| Hamid Ganji, Nayereh Nouri, Mansoor Salehi, Omid Aryani, Massoud Houshmand, Keivan Basiri, Esmat Fazel-Najafabadi, Maryam Sedgh. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. Journal of child neurology. vol 30. issue 5. 2015-12-29. PMID:24563475. |
in this study, we performed a quantitative test in 20 of 87 spinal muscular atrophy patients who did not have homozygous deletion of smn1. |
2015-12-29 |
2023-08-12 |
Not clear |
| [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. Genetika. vol 51. issue 9. 2015-12-16. PMID:26606804. |
[smn1 gene point mutations in type i-iv proximal spinal muscular atrophy patients with a single copy of smn1]. |
2015-12-16 |
2023-08-13 |
Not clear |
| Miho Maeda, Ashlee W Harris, Brewster F Kingham, Casey J Lumpkin, Lynn M Opdenaker, Suzanne M McCahan, Wenlan Wang, Matthew E R Butchbac. Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. PloS one. vol 9. issue 9. 2015-12-08. PMID:25191843. |
proximal spinal muscular atrophy (sma) is an early onset, autosomal recessive motor neuron disease caused by loss of or mutation in smn1 (survival motor neuron 1). |
2015-12-08 |
2023-08-13 |
mouse |
| Kushol Gupta, Renee Martin, Robert Sharp, Kathryn L Sarachan, Nisha S Ninan, Gregory D Van Duyn. Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes. The Journal of biological chemistry. vol 290. issue 33. 2015-12-08. PMID:26092730. |
deletions and mutations in the smn1 gene are associated with spinal muscular atrophy (sma), a devastating neurodegenerative disease that is the leading heritable cause of infant mortality. |
2015-12-08 |
2023-08-13 |
human |
| Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min X. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC musculoskeletal disorders. vol 16. 2015-12-07. PMID:25888055. |
molecular characterization and copy number of smn1, smn2 and naip in chinese patients with spinal muscular atrophy and unrelated healthy controls. |
2015-12-07 |
2023-08-13 |
Not clear |
| Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min X. Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls. BMC musculoskeletal disorders. vol 16. 2015-12-07. PMID:25888055. |
spinal muscular atrophy (sma) is caused by smn1 dysfunction, and the copy number of smn2 and naip can modify the phenotype of sma. |
2015-12-07 |
2023-08-13 |
Not clear |
| Lyndsay M Murray, Ariane Beauvais, Kunal Bhanot, Rashmi Kothar. Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy. Neurobiology of disease. vol 49. 2015-11-10. PMID:22960106. |
spinal muscular atrophy (sma) is a devastating childhood motor neuron disease caused by mutations and deletions within the survival motor neuron 1 (smn1) gene. |
2015-11-10 |
2023-08-12 |
mouse |
| Qing Huo, Melis Kayikci, Philipp Odermatt, Kathrin Meyer, Olivia Michels, Smita Saxena, Jernej Ule, Daniel Schümperl. Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA biology. vol 11. issue 11. 2015-10-26. PMID:25692239. |
spinal muscular atrophy (sma) is caused by deletions or mutations in the survival motor neuron 1 (smn1) gene. |
2015-10-26 |
2023-08-13 |
mouse |
| Wenhui Zhang, Yanyan Cao, Fang Song, Yujin Qu, Jinli Bai, Yuwei Jin, Hong Wan. [Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA]. Zhonghua yi xue za zhi. vol 95. issue 6. 2015-10-22. PMID:25916779. |
[analysis of smn1 gene partial deletion of spinal muscular atrophy based on mlpa]. |
2015-10-22 |
2023-08-13 |
Not clear |
| John F Staropoli, Huo Li, Seung J Chun, Norm Allaire, Patrick Cullen, Alice Thai, Christina M Fleet, Yimin Hua, C Frank Bennett, Adrian R Krainer, Doug Kerr, Alexander McCampbell, Frank Rigo, John P Carull. Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7. Genomics. vol 105. issue 4. 2015-09-25. PMID:25645699. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by disruption of the survival motor neuron 1 (smn1) gene, partly compensated for by the paralogous gene smn2. |
2015-09-25 |
2023-08-13 |
mouse |
| Xiaoyang Gao, Yanling Teng, Jintao Luo, Liange Huang, Min Li, Zhuohua Zhang, Yong-Chao Ma, Long M. The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions. RNA biology. vol 11. issue 9. 2015-09-23. PMID:25483032. |
spinal muscular atrophy (sma), the most frequent human congenital motor neuron degenerative disease, is caused by loss-of-function mutations in the highly conserved survival motor neuron gene smn1. |
2015-09-23 |
2023-08-13 |
human |
| Dairong Feng, Yi Cheng, Yan Meng, Liping Zou, Shangzhi Huang, Jiuyong Xi. Multiple effects of curcumin on promoting expression of the exon 7-containing SMN2 transcript. Genes & nutrition. vol 10. issue 6. 2015-09-21. PMID:26386842. |
survival of motor neuron 2 (smn2) is a modifier gene for spinal muscular atrophy (sma), a neurodegenerative disease caused by insufficient smn protein mostly due to smn1 defect. |
2015-09-21 |
2023-08-13 |
Not clear |