| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Vicki L McGovern, Aurélie Massoni-Laporte, Xueyong Wang, Thanh T Le, Hao T Le, Christine E Beattie, Mark M Rich, Arthur H M Burghe. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse. PloS one. vol 10. issue 7. 2016-05-10. PMID:26134627. |
spinal muscular atrophy is caused by loss of the smn1 gene and retention of smn2. |
2016-05-10 |
2023-08-13 |
mouse |
| Hansjörg Rindt, Zhihua Feng, Chiara Mazzasette, Jacqueline J Glascock, David Valdivia, Noah Pyles, Thomas O Crawford, Kathryn J Swoboda, Teresa N Patitucci, Allison D Ebert, Charlotte J Sumner, Chien-Ping Ko, Christian L Lorso. Astrocytes influence the severity of spinal muscular atrophy. Human molecular genetics. vol 24. issue 14. 2016-04-28. PMID:25911676. |
systemically low levels of survival motor neuron-1 (smn1) protein cause spinal muscular atrophy (sma). |
2016-04-28 |
2023-08-13 |
mouse |
| Jessica L Larson, Ari J Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee M Silve. Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. BMC medical genetics. vol 16. 2016-04-25. PMID:26510457. |
spinal muscular atrophy (sma) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, smn1. |
2016-04-25 |
2023-08-13 |
human |
| Jean Giacomotto, Silke Rinkwitz, Thomas S Becke. Effective heritable gene knockdown in zebrafish using synthetic microRNAs. Nature communications. vol 6. 2016-03-23. PMID:26051838. |
using this approach, we reproduce spinal muscular atrophy (sma) in zebrafish by targeting the smn1 gene. |
2016-03-23 |
2023-08-13 |
human |
| Justin G Boyer, Marc-Olivier Deguise, Lyndsay M Murray, Armin Yazdani, Yves De Repentigny, Céline Boudreau-Larivière, Rashmi Kothar. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy. Human molecular genetics. vol 23. issue 16. 2016-03-22. PMID:24691550. |
mutations in the survival motor neuron (smn1) gene lead to the neuromuscular disease spinal muscular atrophy (sma). |
2016-03-22 |
2023-08-13 |
mouse |
| Nozomu Kato, Nihayatus Sa'Adah, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Hideyuki Sato, Ahmad Hamim Sadewa, Indwiani Astuti, Sofia Mubarika Haryana, Toshio Saito, Kayoko Saito, Noriyuki Nishimura, Hisahide Nishio, Atsuko Takeuch. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test. The Kobe journal of medical sciences. vol 60. issue 4. 2016-03-17. PMID:25791416. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by mutations in smn1. |
2016-03-17 |
2023-08-13 |
Not clear |
| Nur Imma Fatimah Harahap, Atsuko Takeuchi, Surini Yusoff, Koji Tominaga, Takeshi Okinaga, Yukihiro Kitai, Toru Takarada, Yuji Kubo, Kayoko Saito, Nihayatus Sa'adah, Dian Kesumapramudya Nurputra, Noriyuki Nishimura, Toshio Saito, Hisahide Nishi. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA. Brain & development. vol 37. issue 7. 2016-03-10. PMID:25459970. |
more than 90% of spinal muscular atrophy (sma) patients show homozygous deletion of smn1 (survival motor neuron 1). |
2016-03-10 |
2023-08-13 |
Not clear |
| Yuji Kubo, Hisahide Nishio, Kayoko Sait. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing. Journal of human genetics. vol 60. issue 5. 2016-03-01. PMID:25716911. |
a new method for smn1 and hybrid smn gene analysis in spinal muscular atrophy using long-range pcr followed by sequencing. |
2016-03-01 |
2023-08-13 |
Not clear |
| Hiroyuki Yamada, Yoshinobu Nishida, Toshiro Maihara, Nihayatus Sa'adah, Nur Imma Fatimah Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Noriyuki Nishimura, Toshio Saito, Yuji Kubo, Kayoko Saito, Hisahide Nishi. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity. Pediatric neurology. vol 52. issue 6. 2016-02-25. PMID:25838041. |
spinal muscular atrophy is caused by survival motor neuron gene smn1 mutations. |
2016-02-25 |
2023-08-13 |
Not clear |
| Mohammad R Abbaszadegan, Fatemeh Keify, Farah Ashrafzadeh, Moein Farshchian, Farhad Khadivi-Zand, Mohammad Naser Teymoorzadeh, Faezeh Mojahedi, Reza Ebrahimzadeh, Mitra Ahadia. Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. Archives of Iranian medicine. vol 14. issue 3. 2016-02-23. PMID:21529108. |
autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of smn1 gene in approximately 94% of sma patients. |
2016-02-23 |
2023-08-12 |
Not clear |
| Danny Mammo, Yoshihiro Yonekawa, Benjamin J Thomas, Ankoor R Shah, Ashkan M Abbey, Michael T Trese, Kimberly A Drenser, Antonio Capon. Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. European journal of ophthalmology. vol 25. issue 6. 2016-02-18. PMID:26109022. |
he was subsequently diagnosed with spinal muscular atrophy with smn1 deletion. |
2016-02-18 |
2023-08-13 |
Not clear |
| 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 |