| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yuewei Chi, Yue Qiao, Ying M. Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-07-07. PMID:38972959. |
spinal muscular atrophy (sma) is a rare neuromuscular disease, which is characterized by the degeneration of motor neurons, leading to symmetrical muscle weakness and atrophy. description of two novel smn1 mutations (patient1: c.683t > a, p.leu228ter; patient2: c.347 t > c, p.ile116 thr). we reported two patients with smn1 mutations with the clinical features, and provided a literature review of the previously reported 22 cases. two sma patients showed progressive proximal lower limb weakness and milder clinical symptom. |
2024-07-07 |
2024-07-11 |
Not clear |
| Xiaohua Peng, Yue Chi, Jinling Wang, Shuangpeng Li, Yang Liu, Chengcheng Tang, Xiaoqing Zhou, Xuan Lu, Yue Gao, Liangxue Lai, Min Chen, Qingjian Zo. Improvement of TaC9-ABE mediated correction of human SMN2 gene. Biotechnology and bioengineering. 2024-06-26. PMID:38923503. |
spinal muscular atrophy (sma) is a devastating neuromuscular disease caused by mutations in the survival motor neuron 1 (smn1) gene. |
2024-06-26 |
2024-06-29 |
human |
| Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Muelle. Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers. Neurology and therapy. 2024-05-15. PMID:38750391. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (smn1) gene resulting in reduced levels of smn protein. |
2024-05-15 |
2024-05-27 |
Not clear |
| Elmor D Pineda, Tu My To, Travis L Dickendesher, Sheila Shapouri, Susan T Iannaccon. Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis. Advances in therapy. 2024-05-06. PMID:38709394. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions and/or mutations in the survival of motor neuron 1 (smn1) gene. |
2024-05-06 |
2024-05-08 |
Not clear |
| Mei Yao, Liya Jiang, Yicheng Yu, Yiqin Cui, Yuwei Chen, Dongming Zhou, Feng Gao, Shanshan Ma. Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR. BMC neurology. vol 24. issue 1. 2024-03-12. PMID:38468256. |
spinal muscular atrophy (sma) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (smn1) gene deletion or mutation. |
2024-03-12 |
2024-03-14 |
Not clear |
| Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar, Gabriel Chow, Imelda Hughes, Marjorie Illingworth, Anirban Majumdar, Chiara Marini-Bettolo, Deepak Parasuraman, Stefan Spinty, Tracey Willis, Mariacristina Scoto, Giovanni Baranell. Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain. Journal of neuromuscular diseases. 2024-01-08. PMID:38189761. |
spinal muscular atrophy (sma) is a progressive neuromuscular disease caused by mutations in survival motor neuron 1 (smn1) gene, leading to reduction in survival motor neuron protein (smn), key for motor neuron survival and function in the brainstem and spinal cord. |
2024-01-08 |
2024-01-10 |
Not clear |
| Maximilian Vidovic, Maren Freigang, Elisa Aust, Katharina Linse, Daniel Petzold, René Günthe. Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen. BMC neurology. vol 23. issue 1. 2023-06-06. PMID:37280513. |
spinal muscular atrophy (sma) is a genetic neuromuscular disease caused by mutations of the smn1 gene. |
2023-06-06 |
2023-08-14 |
Not clear |
| Jinli Bai, Yujin Qu, Shijia OuYang, Hui Jiao, Yang Wang, Jingjing Li, Wenchen Huang, Yunlong Zhao, Xiaoyin Peng, Depeng Wang, Yuwei Jin, Hong Wang, Fang Son. Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy. Neuromuscular disorders : NMD. vol 33. issue 5. 2023-04-06. PMID:37023488. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by biallelic variants of the survival motor neuron 1 (smn1) gene. |
2023-04-06 |
2023-08-14 |
Not clear |
| Luisa Hennlein, Hanaa Ghanawi, Florian Gerstner, Eduardo Palominos García, Ezgi Yildirim, Lena Saal-Bauernschubert, Mehri Moradi, Chunchu Deng, Teresa Klein, Silke Appenzeller, Markus Sauer, Michael Briese, Christian Simon, Michael Sendtner, Sibylle Jablonk. Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy. The Journal of cell biology. vol 222. issue 3. 2023-01-06. PMID:36607273. |
sma is a lethal pediatric neuromuscular disease caused by loss of or mutations in the survival motor neuron 1 (smn1) gene. |
2023-01-06 |
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 |
| 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 |
| 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 |
| Jia Wang, Jinli Bai, Shijia OuYang, Hong Wang, Yuwei Jin, Xiaoyin Peng, Xiushan Ge, Hui Jiao, Jizhen Zou, Cai He, Ping Xiao, Fang Song, Yujin Q. Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model. Human molecular genetics. 2021-12-10. PMID:34888619. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease caused by homozygous deletions or mutations in survival motor neuron gene 1 (smn1). |
2021-12-10 |
2023-08-13 |
mouse |
| Margaux Lemoine, Marta Gomez, Lamiae Grimaldi, J Andoni Urtizberea, Susana Quijano-Ro. [The SMA France national registry: already encouraging results]. Medecine sciences : M/S. vol 37 Hors série n° 1. 2021-12-09. PMID:34878390. |
spinal muscular atrophy is a debilitating neuromuscular disease due to the deletion of the smn1 gene (sma). |
2021-12-09 |
2023-08-13 |
Not clear |
| Marina Boido, Elena De Amicis, Katia Mareschi, Franca Fagioli, Alessandro Vercell. Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy. European journal of histochemistry : EJH. vol 65. issue s1. 2021-11-25. PMID:34734684. |
spinal muscular atrophy (sma) is a severe neuromuscular disease affecting children, due to mutation/deletion of survival motor neuron 1 (smn1) gene. |
2021-11-25 |
2023-08-13 |
mouse |
| Zohreh Sharifi, Mohammad Taheri, Mohammad-Sadegh Fallah, Maryam Abiri, Fatemeh Golnabi, Hamideh Bagherian, Razieh Zeinali, Hossein Farahzadi, Marjan Alborji, Pardis Ghazizadeh Tehrani, Masoume Amini, Sadaf Asnavandi, Mehrdad Hashemi, Flora Forouzesh, Sirous Zeinal. Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran. Journal of molecular neuroscience : MN. vol 71. issue 11. 2021-11-12. PMID:33481221. |
spinal muscular atrophies (smas) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy, with different modes of inheritance; however, the survival motor neuron 1 (smn1) gene is predominantly involved. |
2021-11-12 |
2023-08-13 |
Not clear |
| Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Poh San Lai, Takenori Tozawa, Tomohiro Chiyonobu, Misaki Yamadera, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohar. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene. Brain & development. vol 43. issue 2. 2021-10-05. PMID:33036822. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by homozygous deletion of smn1 exons 7 and 8. |
2021-10-05 |
2023-08-13 |
Not clear |
| Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug-Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa Chand, Sitra Tauscher-Wisniewski, Nuno Mendonca, Arseniy Lavro. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. The Lancet. Neurology. vol 20. issue 10. 2021-09-28. PMID:34536405. |
spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (smn1) gene, resulting in motor neuron dysfunction. |
2021-09-28 |
2023-08-13 |
Not clear |