| 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 caused by compound heterozygous smn1 mutations: two cases and literature review. |
2024-07-07 |
2024-07-11 |
Not clear |
| 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 |
| Gayatri Gandhi, Radha Kodiappan, Syahril Abdullah, Hoon Koon Teoh, Lihui Tai, Soon Keng Cheong, Wendy Wai Yeng Ye. Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs. Journal of neuropathology and experimental neurology. 2024-06-19. PMID:38894621. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder due to deletion or mutation of survival motor neuron 1 (smn1) gene. |
2024-06-19 |
2024-06-21 |
Not clear |
| E S Novikov. [Experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the SMN1 gene and the same copy number of the SMN2 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 124. issue 5. 2024-06-17. PMID:38884441. |
[experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the smn1 gene and the same copy number of the smn2 gene]. |
2024-06-17 |
2024-06-19 |
Not clear |
| Dian Kesumapramudya Nurputra, Jessica Sofian, Kristy Iskandar, Agung Triono, Elizabeth Siti Herini, Sunartini, Zulvikar Syambani Ulha. Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-05-28. PMID:38806879. |
multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing dync1h1 and smn1 gene mutations. |
2024-05-28 |
2024-06-03 |
Not clear |
| 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 |
| I-Na Lu, Phyllis Fung-Yi Cheung, Michael Heming, Christian Thomas, Giovanni Giglio, Markus Leo, Merve Erdemir, Timo Wirth, Simone König, Christine A Dambietz, Christina B Schroeter, Christopher Nelke, Jens T Siveke, Tobias Ruck, Luisa Klotz, Carmen Haider, Romana Höftberger, Christoph Kleinschnitz, Heinz Wiendl, Tim Hagenacker, Gerd Meyer Zu Horst. Cell-mediated cytotoxicity within CSF and brain parenchyma in spinal muscular atrophy unaltered by nusinersen treatment. Nature communications. vol 15. issue 1. 2024-05-15. PMID:38750052. |
5q-associated spinal muscular atrophy (sma) is a motoneuron disease caused by mutations in the survival motor neuron 1 (smn1) gene. |
2024-05-15 |
2024-05-27 |
Not clear |
| Diou Luo, Eric W Ottesen, Ji Heon Lee, Ravindra N Sing. Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes. Scientific reports. vol 14. issue 1. 2024-05-07. PMID:38714739. |
spinal muscular atrophy (sma) genes, smn1 and smn2 (hereinafter referred to as smn1/2), produce multiple circular rnas (circrnas), including c2a-2b-3-4 that encompasses early exons 2a, 2b, 3 and 4. |
2024-05-07 |
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 |
| Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu, Dong Wan. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy. Human molecular genetics. 2024-03-23. PMID:38520738. |
spinal muscular atrophy (sma), which results from the deletion or/and mutation in the smn1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. |
2024-03-23 |
2024-03-26 |
Not clear |
| Ningning Wang, Kexin Jiao, Jin He, Bochen Zhu, Nachuan Cheng, Jian Sun, Lan Chen, Wanjin Chen, Lingyun Gong, Kai Qiao, Jianying Xi, Qihan Wu, Chongbo Zhao, Wenhua Zh. Diagnosis of challenging spinal muscular atrophy cases with long-read sequencing. The Journal of molecular diagnostics : JMD. 2024-03-15. PMID:38490302. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder primarily caused by the deletion or mutation of the survival motor neuron 1 (smn1) gene. |
2024-03-15 |
2024-03-18 |
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. |
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. |
2024-03-12 |
2024-03-14 |
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 |
| Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacke. Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy. Acta neuropathologica. vol 147. issue 1. 2024-03-12. PMID:38470509. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (smn1) gene (localized on 5q). |
2024-03-12 |
2024-03-15 |
mouse |
| Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler, Gabriella Vier. The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies. Biochemical Society transactions. 2024-02-23. PMID:38391004. |
the underlying cause of spinal muscular atrophy (sma) is in the reduction of survival motor neuron (smn) protein levels due to mutations in the smn1 gene. |
2024-02-23 |
2024-02-25 |
Not clear |
| Yu Jiang, Zhenyu Luo, Wenrong Wang, Xingxiu Lu, ZhongMin Xia, Jieqiong Xie, Mei Lu, Lili Wu, Yulin Zhou, Qiwei Gu. Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries. European journal of medical genetics. 2024-02-07. PMID:38325644. |
heterozygous carriers of the survival of motor neuron 1 (smn1) gene deletion in parents account for approximately 95% of neonatal spinal muscular atrophy cases. |
2024-02-07 |
2024-02-10 |
Not clear |
| Murat Gülşen, Ahmet Cevdet Ceylan, Taha Bahsi, Hikmet Can Çubukçu, Onur Burak Dursu. Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort. Clinica chimica acta; international journal of clinical chemistry. 2024-02-03. PMID:38309554. |
this study assessed quantitative real-time polymerase chain reaction (qrt-pcr) compared to multiplex ligation-dependent probe amplification (mlpa) for detecting spinal muscular atrophy (sma) through smn1 gene copy number analysis in a turkish cohort. |
2024-02-03 |
2024-02-06 |
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 |
| Megan A Waldrop, Shannon Chagat, Michael Storey, Alayne Meyer, Megan Iammarino, Natalie Reash, Lindsay Alfano, Linda Lowes, Garey Noritz, Andre Prochoroff, Ian Rossman, Matthew Ginsberg, Kathryn Mosher, Eileen Broomall, Nancy Bass, Courtney Gushue, Kavitha Kotha, Grace Paul, Richard Shell, Chang-Yong Tsao, Jerry R Mendell, Anne M Connoll. Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio. Neuromuscular disorders : NMD. vol 34. 2023-12-24. PMID:38142474. |
5q spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disease caused by absence of the smn1 gene with three fda approved genetic therapies which significantly improve outcomes. |
2023-12-24 |
2023-12-27 |
Not clear |