| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Li Wang, Yinfeng Ji, Yuqing Chen, Jialin Bai, Peng Gao, Pengchao Fen. A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy. Human molecular genetics. 2022-10-18. PMID:36255739. |
spinal muscular atrophy (sma) is a fatal neuromuscular disease caused by homozygous deletions or mutations of the smn1 gene. |
2022-10-18 |
2023-08-14 |
mouse |
| Myriam Vezain, Christel Thauvin-Robinet, Yoann Vial, Sophie Coutant, Séverine Drunat, Jon Andoni Urtizberea, Anne Rolland, Agnès Jacquin-Piques, Séverine Fehrenbach, Gaël Nicolas, François Lecoquierre, Pascale Saugier-Vebe. Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy. Human genetics. 2022-09-22. PMID:36138164. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the smn1 gene: deletion, gene conversion or, in rare cases, intragenic variants. |
2022-09-22 |
2023-08-14 |
human |
| Claudia A Chiribog. Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies. Paediatric drugs. 2022-08-26. PMID:36028610. |
spinal muscular atrophy (sma) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness and atrophy that is caused by survival motor neuron (smn) protein deficiency resulting from the biallelic loss of the smn1 gene. |
2022-08-26 |
2023-08-14 |
Not clear |
| Eugenio Mercuri, Charlotte J Sumner, Francesco Muntoni, Basil T Darras, Richard S Finke. Spinal muscular atrophy. Nature reviews. Disease primers. vol 8. issue 1. 2022-08-04. PMID:35927425. |
spinal muscular atrophy (sma) is a neurodegenerative disorder caused by mutations in smn1 (encoding survival motor neuron protein (smn)). |
2022-08-04 |
2023-08-14 |
Not clear |
| Eugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, Liesbeth De Waele, Nathalie Goemans, Janbernd Kirschner, Riccardo Masson, Elena S Mazzone, Astrid Pechmann, Maria Carmela Pera, Carole Vuillerot, Silvia Bader-Weder, Marianne Gerber, Ksenija Gorni, Janine Hoffart, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S Scalco, Wai Yin Yeung, Laurent Servai. Risdiplam in Types 2 and 3 spinal muscular atrophy: a randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment. European journal of neurology. 2022-07-15. PMID:35837793. |
spinal muscular atrophy (sma) is caused by reduced levels of survival of motor neuron (smn) protein due to deletions and/or mutations in the smn1 gene. |
2022-07-15 |
2023-08-14 |
Not clear |
| Kevin A Strauss, Michelle A Farrar, Francesco Muntoni, Kayoko Saito, Jerry R Mendell, Laurent Servais, Hugh J McMillan, Richard S Finkel, Kathryn J Swoboda, Jennifer M Kwon, Craig M Zaidman, Claudia A Chiriboga, Susan T Iannaccone, Jena M Krueger, Julie A Parsons, Perry B Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E McGill, Thomas A Mace. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature medicine. 2022-06-17. PMID:35715567. |
most children with biallelic smn1 deletions and three smn2 copies develop spinal muscular atrophy (sma) type 2. |
2022-06-17 |
2023-08-14 |
Not clear |
| Luciano E Marasco, Gwendal Dujardin, Rui Sousa-Luís, Ying Hsiu Liu, Jose N Stigliano, Tomoki Nomakuchi, Nick J Proudfoot, Adrian R Krainer, Alberto R Kornbliht. Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell. vol 185. issue 12. 2022-06-10. PMID:35688133. |
spinal muscular atrophy (sma) is a motor-neuron disease caused by mutations of the smn1 gene. |
2022-06-10 |
2023-08-14 |
mouse |
| Shuyuan Li, Xu Han, Yan Xu, Chunxin Chang, Li Gao, Jiaqi Li, Yulin Lu, Aiping Mao, Yanlin Wan. Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing. The Journal of molecular diagnostics : JMD. 2022-06-06. PMID:35659528. |
comprehensive analysis of spinal muscular atrophy (casma): smn1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing. |
2022-06-06 |
2023-08-14 |
Not clear |
| Weijiang Jin, Zhengquan Yang, Xiaojun Tang, Xiuchao Wang, Yaxin Huang, Chenmin Hui, Jiaming Yao, Ju Luan, Shaohua Tang, Shengnan Wu, Shengnan Jin, Chunming Din. Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing. Clinica chimica acta; international journal of clinical chemistry. 2022-06-01. PMID:35643151. |
simultaneous quantification of smn1 and smn2 copy numbers by maldi-tof mass spectrometry for spinal muscular atrophy genetic testing. |
2022-06-01 |
2023-08-13 |
Not clear |
| Weijiang Jin, Zhengquan Yang, Xiaojun Tang, Xiuchao Wang, Yaxin Huang, Chenmin Hui, Jiaming Yao, Ju Luan, Shaohua Tang, Shengnan Wu, Shengnan Jin, Chunming Din. Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing. Clinica chimica acta; international journal of clinical chemistry. 2022-06-01. PMID:35643151. |
spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disorder caused by defects in the survival motor neuron 1 (smn1) gene. |
2022-06-01 |
2023-08-13 |
Not clear |
| Mengyao Dai, Yan Xu, Yu Sun, Bing Xiao, Xiaomin Ying, Yu Liu, Wenting Jiang, Jingmin Zhang, Xiaoqing Liu, Xing J. Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing. Molecular genetics and genomics : MGG. 2022-05-25. PMID:35612622. |
the survival of motor neuron (smn) genes, smn1 and smn2, are two highly homologous genes related to spinal muscular atrophy (sma). |
2022-05-25 |
2023-08-13 |
Not clear |
| Aoife Reilly, Lucia Chehade, Rashmi Kothar. Curing SMA: Are we there yet? Gene therapy. 2022-05-25. PMID:35614235. |
loss or deletion of survival motor neuron 1 gene (smn1) is causative for a severe and devastating neuromuscular disease, spinal muscular atrophy (sma). |
2022-05-25 |
2023-08-13 |
Not clear |
| Deepa H Chand, Susan Mitchell, Rui Sun, Nicole LaMarca, Sandra P Reyna, Thao Sutte. Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program. Pediatric neurology. vol 132. 2022-05-23. PMID:35605311. |
spinal muscular atrophy is a rare, neurodegenerative disorder caused by biallelic deletions in the survival motor neuron (smn1) gene. |
2022-05-23 |
2023-08-13 |
Not clear |
| Laura H Comley, Rachel A Kline, Alison K Thomson, Victoria Woschitz, Eric Villalón Landeros, Erkan Y Osman, Christian L Lorson, Lyndsay M Murra. Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy. Human molecular genetics. 2022-05-13. PMID:35551393. |
spinal muscular atrophy (sma) is a childhood motor neuron disease caused by anomalies in the smn1 gene. |
2022-05-13 |
2023-08-13 |
mouse |
| Andrew I Mikhail, Sean Y Ng, Aislin K Osborne, Abbas K Canteenwala, Vladimir Ljubici. Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35560477. |
spinal muscular atrophy (sma) is a debilitating neuromuscular disorder caused by a mutation in the survival motor neuron 1 (smn1) gene and it is the leading genetic cause of infant mortality. |
2022-05-13 |
2023-08-13 |
mouse |
| Aoife Reilly, Marc-Olivier Deguise, Ariane Beauvais, Rebecca Yaworski, Simon Thebault, Daniel R Tessier, Vincent Tabard-Cossa, Niko Hensel, Bernard L Schneider, Rashmi Kothar. Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy. Gene therapy. 2022-04-25. PMID:35462564. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by loss of the smn1 gene and low smn protein levels. |
2022-04-25 |
2023-08-13 |
mouse |
| Ying Xu, Tingting Song, Xiaozhou Wang, Jiao Zheng, Yu Li, Fenfen Guo, Yuanfeng Li, Zijian Guo, Yaling Dou, Yu Wang, Ye Zhao, Hong Yan. Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing. Brain & development. 2022-04-13. PMID:35414447. |
spinal muscular atrophy (sma) is a neuromuscular disease mainly caused by the absence of both copies of the survival motor neuron 1 (smn1) gene. |
2022-04-13 |
2023-08-13 |
Not clear |
| Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenariu. The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity. Molecular genetics & genomic medicine. 2022-03-15. PMID:35289093. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (smn1) gene. |
2022-03-15 |
2023-08-13 |
Not clear |
| Mengya Zhang, Yanhong Lin, Xiao Zhang, Fenghua Lan, Jian Zen. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay. Clinica chimica acta; international journal of clinical chemistry. 2022-03-06. PMID:35248528. |
premature termination codons in smn1 leading to spinal muscular atrophy trigger nonsense-mediated mrna decay. |
2022-03-06 |
2023-08-13 |
Not clear |
| Mengya Zhang, Yanhong Lin, Xiao Zhang, Fenghua Lan, Jian Zen. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay. Clinica chimica acta; international journal of clinical chemistry. 2022-03-06. PMID:35248528. |
spinal muscular atrophy is an autosomal recessive neurodegenerative disorder caused by smn1 gene mutations. |
2022-03-06 |
2023-08-13 |
Not clear |