| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui L. Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report. BMC neurology. vol 23. issue 1. 2023-02-21. PMID:36803361. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (smn1) gene. |
2023-02-21 |
2023-08-14 |
Not clear |
| Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperaviciute, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A Eberl. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. American journal of human genetics. 2023-01-20. PMID:36669496. |
comprehensive smn1 and smn2 profiling for spinal muscular atrophy analysis using long-read pacbio hifi sequencing. |
2023-01-20 |
2023-08-14 |
Not clear |
| Marta Nadal, Rosa Anton, Jonatan Dorca-Arévalo, Eva Estébanez-Perpiñá, Eduardo F Tizzano, Pablo Fuentes-Prio. Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts. Protein science : a publication of the Protein Society. 2022-12-23. PMID:36560896. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by the absence of a functional copy of the survival of motor neuron 1 gene (smn1). |
2022-12-23 |
2023-08-14 |
Not clear |
| Ilaria Giovannelli, Adrian Higginbottom, Janine Kirby, Mimoun Azzouz, Pamela J Sha. Prospects for gene replacement therapies in amyotrophic lateral sclerosis. Nature reviews. Neurology. 2022-12-09. PMID:36481799. |
in addition, the approval of adeno-associated virus-mediated delivery of functional copies of the smn1 gene to treat spinal muscular atrophy represents an important therapeutic milestone and demonstrates the potential of gene replacement therapies for motor neuron disorders. |
2022-12-09 |
2023-08-14 |
Not clear |
| Giorgia Coratti, Martina Ricci, Anna Capasso, Adele D'amico, Valeria Sansone, Claudio Bruno, Sonia Messina, Federica Ricci, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Mara Turri, Massimiliano Filosto, Giacomo Comi, Riccardo Masson, Lorenzo Maggi, Irene Bruno, Maria Grazia D'Angelo, Antonio Trabacca, Veria Vacchiano, Maria Donati, Isabella Simone, Lucia Ruggiero, Antonio Varone, Lorenzo Verriello, Angela Berardinelli, Caterina Agosto, Antonella Pini, Maria Antonietta Maioli, Luigia Passamano, Filippo Brighina, Nicola Carboni, Matteo Garibaldi, Riccardo Zuccarino, Delio Gagliardi, Sabrina Siliquini, Stefano Previtali, Domenica Taruscio, Stefania Boccia, Maria Carmela Pera, Marika Pane, Eugenio Mercur. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. Neurology. 2022-12-02. PMID:36460469. |
spinal muscular atrophy (sma) is a neurodegenerative disorder caused by mutations in the smn1 gene. |
2022-12-02 |
2023-08-14 |
Not clear |
| John W Day, Kelly Howell, Amy Place, Kimberly Long, Jose Rossello, Nathalie Kertesz, George Nomiko. Advances and limitations for the treatment of spinal muscular atrophy. BMC pediatrics. vol 22. issue 1. 2022-11-04. PMID:36329412. |
spinal muscular atrophy (5q-sma; sma), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the smn1 gene that produces survival motor neuron (smn) protein. |
2022-11-04 |
2023-08-14 |
Not clear |
| Julie Mouchet, Spyros Roumpanis, Eleni Gaki, Scott Lipnick, Maryam Oskoui, Renata S Scalco, Basil T Darra. Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA. Journal of neuromuscular diseases. 2022-10-31. PMID:36314213. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by homozygous deletion or loss-of-function mutations of the survival of motor neuron 1 (smn1) gene, resulting in reduced levels of smn protein throughout the body. |
2022-10-31 |
2023-08-14 |
Not clear |
| 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 |