| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Anna A L Motyl, Kiterie M E Faller, Ewout J N Groen, Rachel A Kline, Samantha L Eaton, Leire M Ledahawsky, Helena Chaytow, Douglas J Lamont, Thomas M Wishart, Yu-Ting Huang, Thomas H Gillingwate. Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy. Human molecular genetics. vol 29. issue 16. 2021-08-27. PMID:32644120. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1). |
2021-08-27 |
2023-08-13 |
mouse |
| Aurore Besse, Stephanie Astord, Thibaut Marais, Marianne Roda, Benoit Giroux, François-Xavier Lejeune, Frederic Relaix, Piera Smeriglio, Martine Barkats, Maria Grazia Bifer. AAV9-Mediated Expression of SMN Restricted to Neurons Does Not Rescue the Spinal Muscular Atrophy Phenotype in Mice. Molecular therapy : the journal of the American Society of Gene Therapy. vol 28. issue 8. 2021-07-12. PMID:32470325. |
spinal muscular atrophy (sma) is a neuromuscular disease mainly caused by mutations or deletions in the survival of motor neuron 1 (smn1) gene and characterized by the degeneration of motor neurons and progressive muscle weakness. |
2021-07-12 |
2023-08-13 |
mouse |
| Kevin A Kaifer, Eric Villalón, Caley E Smith, Madeline E Simon, Jose Marquez, Abigail E Hopkins, Toni I Morcos, Christian L Lorso. AAV9-DOK7 gene therapy reduces disease severity in Smn Biochemical and biophysical research communications. vol 530. issue 1. 2021-02-24. PMID:32828271. |
aav9-dok7 gene therapy reduces disease severity in smn spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (smn1) gene. |
2021-02-24 |
2023-08-13 |
mouse |
| A R Malakhova, I S Krysanov, T P Vasilieva, E Yu Krasilnikova, O Yu Aleksandrova, R A Zinchenko, S I Kutse. [The cost of specialized medical care of children under spinal muscular atrophy in Moscow]. Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny. vol 29. issue 1. 2021-02-18. PMID:33591660. |
the spinal muscular atrophy is neuromuscular disease caused by mutations in smn1 gene. |
2021-02-18 |
2023-08-13 |
Not clear |
| Kevin A Kaifer, Eric Villalón, Benjamin S O'Brien, Samantha L Sison, Caley E Smith, Madeline E Simon, Jose Marquez, Siri O'Day, Abigail E Hopkins, Rachel Neff, Hansjörg Rindt, Allison D Ebert, Christian L Lorso. AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/-SMA model mice. Human molecular genetics. vol 28. issue 19. 2020-05-11. PMID:31211843. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in survival motor neuron 1 (smn1). |
2020-05-11 |
2023-08-13 |
mouse |
| K R Valetdinova, M A Maretina, M L Kuranova, E V Grigor'eva, Y M Minina, E A Kizilova, A V Kiselev, S P Medvedev, V S Baranov, S M Zakia. Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines. Stem cell research. vol 34. 2019-08-06. PMID:30660867. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletion or mutation in smn1 gene. |
2019-08-06 |
2023-08-13 |
human |
| Gamze Bora, Şulenur Subaşı-Yıldız, Ayşe Yeşbek-Kaymaz, Numan Bulut, İpek Alemdaroğlu, Öznur Tunca-Yılmaz, Haluk Topaloğlu, Aynur Ayşe Karaduman, Hayat Erdem-Yurte. Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. Journal of child neurology. vol 33. issue 3. 2019-07-23. PMID:29327642. |
exercise studies in neuromuscular diseases like spinal muscular atrophy (sma), a devastating disease caused by survival of motor neuron 1 ( smn1) gene mutations, are drawing attention due to its beneficial effects. |
2019-07-23 |
2023-08-13 |
Not clear |
| Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercell. Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy. Cell death & disease. vol 8. issue 12. 2018-08-27. PMID:29259166. |
spinal muscular atrophy (sma) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (smn1). |
2018-08-27 |
2023-08-13 |
mouse |
| Mawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Naoya Morisada, Shinichiro Yanagisawa, Toshio Saito, Kaori Kaneko, Kayoko Saito, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohar. Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy. The Kobe journal of medical sciences. vol 63. issue 2. 2018-08-27. PMID:29434173. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a mutation in smn1. |
2018-08-27 |
2023-08-13 |
Not clear |
| Xingxing Wu, Shu-Huei Wang, Junjie Sun, Adrian R Krainer, Yimin Hua, Thomas W Prio. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Human molecular genetics. vol 26. issue 14. 2018-01-11. PMID:28460014. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by reduced expression of survival of motor neuron (smn), a protein expressed in humans by two paralogous genes, smn1 and smn2. |
2018-01-11 |
2023-08-13 |
Not clear |
| Xianda Wei, Hu Tan, Pu Yang, Rui Zhang, Bo Tan, Yue Zhang, Libin Mei, Desheng Liang, Lingqian W. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data. Journal of genetic counseling. vol 26. issue 1. 2017-11-16. PMID:27422779. |
spinal muscular atrophy is an autosomal recessive neuromuscular disease mainly caused by homozygous deletion of smn1. |
2017-11-16 |
2023-08-13 |
Not clear |
| Chung-Wei Yang, Chien-Lin Chen, Wei-Chun Chou, Ho-Chen Lin, Yuh-Jyh Jong, Li-Kai Tsai, Chun-Yu Chuan. An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy. PloS one. vol 11. issue 6. 2017-07-26. PMID:27331400. |
spinal muscular atrophy (sma) is an inherited neuromuscular disease resulting from a recessive mutation in the smn1 gene. |
2017-07-26 |
2023-08-13 |
mouse |
| María G Boza-Morán, Rebeca Martínez-Hernández, Sara Bernal, Klaus Wanisch, Eva Also-Rallo, Anita Le Heron, Laura Alías, Cécile Denis, Mathilde Girard, Jiing-Kuan Yee, Eduardo F Tizzano, Rafael J Yáñez-Muño. Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons. Scientific reports. vol 5. 2016-05-16. PMID:26114395. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1), leading to degeneration of alpha motor neurons (mns) but also affecting other cell types. |
2016-05-16 |
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 |
| 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 |
| 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 |
| Marco A Passini, Jie Bu, Amy M Richards, Christopher M Treleaven, Jennifer A Sullivan, Catherine R O'Riordan, Abraham Scaria, Adrian P Kells, Lluis Samaranch, Waldy San Sebastian, Thais Federici, Massimo S Fiandaca, Nicholas M Boulis, Krystof S Bankiewicz, Lamya S Shihabuddin, Seng H Chen. Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Human gene therapy. vol 25. issue 7. 2015-03-13. PMID:24617515. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1). |
2015-03-13 |
2023-08-12 |
mouse |
| Cao Yanyan, Qu Yujin, Bai Jinli, Jin Yuwei, Wang Hong, Song Fan. Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. Journal of human genetics. vol 59. issue 1. 2014-07-18. PMID:24172247. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disease in children caused by homozygous deletion of the survival motor neuron 1 gene (smn1). |
2014-07-18 |
2023-08-12 |
human |
| Jeffrey M Keil, Joonbae Seo, Matthew D Howell, Walter H Hsu, Ravindra N Singh, Christine J DiDonat. A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy. Molecular therapy. Nucleic acids. vol 3. 2014-07-09. PMID:25004100. |
sma is a neuromuscular disease caused by loss-of-function mutations in the survival motor neuron 1 (smn1) gene. |
2014-07-09 |
2023-08-13 |
mouse |
| Chantal A Mutsaers, Douglas J Lamont, Gillian Hunter, Thomas M Wishart, Thomas H Gillingwate. Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy. Genome medicine. vol 5. issue 10. 2014-05-20. PMID:24134804. |
spinal muscular atrophy (sma) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (smn1) gene. |
2014-05-20 |
2023-08-12 |
human |