| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoc. Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Molecular genetics & genomic medicine. vol 8. issue 7. 2021-04-30. PMID:32337852. |
spinal muscular atrophy caused by a novel alu-mediated deletion of exons 2a-5 in smn1 undetectable with routine genetic testing. |
2021-04-30 |
2023-08-13 |
Not clear |
| Annarita Miccio, Panagiotis Antoniou, Sorana Ciura, Edor Kabash. Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges. Molecular therapy : the journal of the American Society of Gene Therapy. 2021-04-29. PMID:33823304. |
spinal muscular atrophy (sma) is caused by smn1 gene mutations leading to lowered smn expression. |
2021-04-29 |
2023-08-13 |
Not clear |
| Xiao Chen, Alba Sanchis-Juan, Courtney E French, Andrew J Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L Halpern, Ryan J Taft, David R Bentley, Matthew E R Butchbach, F Lucy Raymond, Michael A Eberl. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 5. 2021-04-27. PMID:32066871. |
spinal muscular atrophy (sma), caused by loss of the smn1 gene, is a leading cause of early childhood death. |
2021-04-27 |
2023-08-13 |
Not clear |
| Abul Kalam Azad, Chih-Kang Huang, Hong Jin, Hongwei Zou, Lindsay Yanakakis, Juan Du, Morry Fiddler, Rizwan Naeem, Yitz Goldstei. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. Laboratory medicine. vol 51. issue 4. 2021-04-20. PMID:31875889. |
enhanced carrier screening for spinal muscular atrophy: detection of silent (smn1: 2 + 0) carriers utilizing a novel taqman genotyping method. |
2021-04-20 |
2023-08-13 |
Not clear |
| Abul Kalam Azad, Chih-Kang Huang, Hong Jin, Hongwei Zou, Lindsay Yanakakis, Juan Du, Morry Fiddler, Rizwan Naeem, Yitz Goldstei. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. Laboratory medicine. vol 51. issue 4. 2021-04-20. PMID:31875889. |
individuals whose copies of the survival motor neuron 1 (smn1) gene exist on the same chromosome are considered silent carriers for spinal muscular atrophy (sma). |
2021-04-20 |
2023-08-13 |
Not clear |
| Yan Xu, Bing Xiao, Yu Liu, Xiao-Xing Qu, Meng-Yao Dai, Xiao-Min Ying, Wen-Ting Jiang, Jing-Min Zhang, Xiao-Qing Liu, Ying-Wei Chen, Xing J. Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR. Neuromuscular disorders : NMD. vol 30. issue 3. 2021-04-08. PMID:32169315. |
spinal muscular atrophy (sma) is caused by homozygous deletions of the smn1 gene in approximately 95% of patients. |
2021-04-08 |
2023-08-13 |
Not clear |
| Wei-Fang Chang, Min Peng, Jing Hsu, Jie Xu, Huan-Chieh Cho, Hsiu-Mei Hsieh-Li, Ji-Long Liu, Chung-Hao Lu, Li-Ying Sun. Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human. International journal of molecular sciences. vol 22. issue 2. 2021-04-06. PMID:33440839. |
a severe neurogenic disease, spinal muscular atrophy (sma), is caused by the loss or mutation of smn1 that specifically occurred in humans. |
2021-04-06 |
2023-08-13 |
mouse |
| Sandra de la Fuente, Alba Sansa, Iván Hidalgo, Nuria Vivancos, Ricardo Romero-Guevara, Ana Garcera, Rosa M Sole. Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models. Cell death & disease. vol 11. issue 6. 2021-03-18. PMID:32587237. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder caused by loss of the survival motor neuron 1 (smn1) gene. |
2021-03-18 |
2023-08-13 |
mouse |
| Cao Yanyan, Cheng Miaomiao, Song Fang, Qu Yujin, Bai Jinli, Wang Hon. Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype. Yi chuan = Hereditas. vol 43. issue 2. 2021-03-18. PMID:33724218. |
familial study of spinal muscular atrophy carriers with smn1 (2+0) genotype. |
2021-03-18 |
2023-08-13 |
Not clear |
| Lingxia Jiang, Robert Lin, Steve Gallagher, Andrew Zayac, Matthew E R Butchbach, Paul Hun. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Scientific reports. vol 10. issue 1. 2021-03-11. PMID:33199817. |
however, a higher-order multiplexing dpcr assay for measuring smn1 and smn2 copy numbers in spinal muscular atrophy (sma) samples has not been reported. |
2021-03-11 |
2023-08-13 |
Not clear |
| Shiori Ando, Shunya Suzuki, Shoichi Okubo, Kazuki Ohuchi, Kei Takahashi, Shinsuke Nakamura, Masamitsu Shimazawa, Koji Fuji, Hideaki Har. Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy. Scientific reports. vol 10. issue 1. 2021-03-08. PMID:33060681. |
spinal muscular atrophy (sma) is a motor neuron disease, typically resulting from loss-of-function mutations in the survival motor neuron 1 (smn1) gene. |
2021-03-08 |
2023-08-13 |
Not clear |
| 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 |
| Jin-Mo Park, Yu-Sun Min, Donghwi Park, Jin-Sung Par. Effect of Nusinersen in a late onset spinal muscular atrophy patient for 14 months: A case report. Medicine. vol 100. issue 1. 2021-01-22. PMID:33429824. |
spinal muscular atrophy (sma) is a genetic disorder caused by genetic defect of smn1 gene. |
2021-01-22 |
2023-08-13 |
Not clear |
| Rebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potock. GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. American journal of medical genetics. Part A. vol 182. issue 5. 2021-01-12. PMID:32181591. |
the majority of patients with spinal muscular atrophy (sma) identified to date harbor a biallelic exonic deletion of smn1. |
2021-01-12 |
2023-08-13 |
Not clear |
| Wei-Fang Chang, Jie Xu, Tzu-Ying Lin, Jing Hsu, Hsiu-Mei Hsieh-Li, Yuh-Ming Hwu, Ji-Long Liu, Chung-Hao Lu, Li-Ying Sun. Survival Motor Neuron Protein Participates in Mouse Germ Cell Development and Spermatogonium Maintenance. International journal of molecular sciences. vol 21. issue 3. 2020-11-05. PMID:31991812. |
the defective human survival motor neuron 1 (smn1) gene leads to spinal muscular atrophy (sma), the most common genetic cause of infant mortality. |
2020-11-05 |
2023-08-13 |
mouse |
| Yingjie Sun, Xiangdong Kong, Zhenhua Zhao, Xuechao Zha. Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China. BMC medical genetics. vol 21. issue 1. 2020-10-28. PMID:32552676. |
spinal muscular atrophy (sma) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (smn1) gene. |
2020-10-28 |
2023-08-13 |
Not clear |
| Mendell Rimer, Bonnie L Seaberg, Pei-Fen Yen, Steven Lam, Robert Louis Hastings, Young Il Lee, Wesley J Thompson, Zhihua Feng, Friedrich Metzger, Sergey Paushkin, Chien-Ping K. Nerve sprouting capacity in a pharmacologically induced mouse model of spinal muscular atrophy. Scientific reports. vol 9. issue 1. 2020-10-15. PMID:31127156. |
spinal muscular atrophy (sma) is caused by loss-of-function mutations in the survival of motoneuron gene 1 (smn1). |
2020-10-15 |
2023-08-13 |
mouse |
| Cynthia C Jones, Suzanne F Cook, Jill Jarecki, Lisa Belter, Sandra P Reyna, John Staropoli, Wildon Farwell, Kenneth Hobb. Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. Journal of neuromuscular diseases. vol 7. issue 1. 2020-10-13. PMID:31707372. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous survival of motor neuron 1 (smn1) gene disruption. |
2020-10-13 |
2023-08-13 |
Not clear |
| David C Schorling, Astrid Pechmann, Janbernd Kirschne. Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. Journal of neuromuscular diseases. vol 7. issue 1. 2020-10-13. PMID:31707373. |
spinal muscular atrophy (sma) is caused by autosomal recessive mutations in smn1 and results in the loss of motor neurons and progressive muscle weakness. |
2020-10-13 |
2023-08-13 |
Not clear |