| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Irene Faravelli, Delia Gagliardi, Elena Abati, Megi Meneri, Jessica Ongaro, Francesca Magri, Valeria Parente, Lucia Petrozzi, Giulia Ricci, Fiorenza Farè, Giulia Garrone, Manuela Fontana, Donatella Caruso, Gabriele Siciliano, Giacomo Pietro Comi, Alessandra Govoni, Stefania Corti, Linda Ottobon. Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study. Cellular and molecular life sciences : CMLS. vol 80. issue 8. 2023-08-05. PMID:37543540. |
spinal muscular atrophy (sma) is a neurodegenerative disorder caused by mutations in the smn1 gene resulting in reduced levels of the smn protein. |
2023-08-05 |
2023-08-14 |
Not clear |
| Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczy. Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. Orphanet journal of rare diseases. vol 18. issue 1. 2023-08-04. PMID:37542300. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a biallelic mutation in the smn1 gene, resulting in progressive muscle weakness and atrophy. |
2023-08-04 |
2023-08-14 |
Not clear |
| Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping H. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry. 2023-07-21. PMID:37479010. |
spinal muscular atrophy (sma) is an autosomal recessive inherited neuromuscular condition caused by biallelic mutations in the survival of motor neuron 1 (smn1) gene. |
2023-07-21 |
2023-08-14 |
Not clear |
| Jacqueline Glascock, Basil T Darras, Thomas O Crawford, Charlotte J Sumner, Stephen J Kolb, Christine DiDonato, Bakri Elsheikh, Kelly Howell, Wildon Farwell, Marta Valente, Marco Petrillo, Jessica Tingey, Jill Jareck. Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. Journal of neuromuscular diseases. 2023-07-17. PMID:37458045. |
spinal muscular atrophy (sma) is caused by bi-allelic, recessive mutations of the survival motor neuron 1 (smn1) gene and reduced expression levels of the survival motor neuron (smn) protein. |
2023-07-17 |
2023-08-14 |
Not clear |
| Nidheesh Chencheri, Gail Alexander, Ahmed Nugud, Eurose Majadas, Haneen Salim, Katy Prudhomme, Noleen DeJager, Vaishnavi Shetty Janardhanan, Haitham Elbashi. Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children. Muscle & nerve. 2023-07-01. PMID:37392188. |
new therapeutic strategies to increase survival motor neuron protein levels in spinal muscular atrophy (sma) have focused on replacing the smn1 gene. |
2023-07-01 |
2023-08-14 |
Not clear |
| Zorica Nakevska, Toshifumi Yokot. Challenges and future perspective of antisense therapy for spinal muscular atrophy: A review. European journal of cell biology. vol 102. issue 2. 2023-06-09. PMID:37295266. |
spinal muscular atrophy (sma), the most common genetic cause of infantile death, is caused by a mutation in the survival of motor neuron 1 gene (smn1), leading to the death of motor neurons and progressive muscle weakness. |
2023-06-09 |
2023-08-14 |
Not clear |
| H S Lapp, M Freigang, T Hagenacker, M Weiler, C D Wurster, René Günthe. Biomarkers in 5q-associated spinal muscular atrophy-a narrative review. Journal of neurology. 2023-06-08. PMID:37289324. |
5q-associated spinal muscular atrophy (sma) is a rare genetic disease caused by mutations in the smn1 gene, resulting in a loss of functional smn protein and consecutive degeneration of motor neurons in the ventral horn. |
2023-06-08 |
2023-08-14 |
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 |
| Ying Zhao, Jiwu Lou, Youqing Fu, Yunshi Dai, Qiaoyi Liang, Manna Sun, Junru Tan, Yanhui Li. [Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 40. issue 6. 2023-05-22. PMID:37211998. |
to carry out carrier screening for spinal muscular atrophy (sma) in reproductive-aged individuals from dongguan region and determine the carrier frequency of smn1 gene mutations. |
2023-05-22 |
2023-08-14 |
Not clear |
| Jonathan Gaillard, Andrew Ran Gu, Erin E Neil Knierbei. Necrotizing Enterocolitis Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series. The Journal of pediatrics. 2023-05-21. PMID:37211209. |
onasemnogene abeparvovec treats spinal muscular atrophy (sma) by delivering a functional smn1 gene. |
2023-05-21 |
2023-08-14 |
Not clear |
| Aleksandra Bieniaszewska, Magdalena Sobieska, Barbara Steinborn, Ewa Gajewsk. Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy. Biomedicines. vol 11. issue 4. 2023-05-16. PMID:37189623. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by the deletion or/and mutation in the survival motor neuron 1 (smn1) gene on chromosome 5. |
2023-05-16 |
2023-08-14 |
human |
| Mayumi Kataoka, Kentaro Sahashi, Koyo Tsujikawa, Jun-Ichi Takeda, Tomoki Hirunagi, Madoka Iida, Masahisa Katsuno. Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy. Neuroscience research. 2023-05-05. PMID:37146794. |
lower motor neuron degeneration is the pathological hallmark of spinal muscular atrophy (sma), a hereditary motor neuron disease caused by loss of the smn1 gene and the resulting deficiency of ubiquitously expressed smn protein. |
2023-05-05 |
2023-08-14 |
mouse |
| Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D Pang, John W Day, Joseph C W. Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene. Stem cell research. vol 69. 2023-04-23. PMID:37087898. |
generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of smn1 gene. |
2023-04-23 |
2023-08-14 |
Not clear |
| Wenshu Zeng, Xiaohui Kong, Christina Alamana, Yu Liu, Jessica Guzman, Paul D Pang, John W Day, Joseph C W. Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene. Stem cell research. vol 69. 2023-04-23. PMID:37087898. |
spinal muscular atrophy (sma) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (smn1) genes. |
2023-04-23 |
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. |
novel alu-mediated deletions of the smn1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy. |
2023-04-06 |
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 |
| Linda-Isabell Schmitt, Christina David, Rebecca Steffen, Stefanie Hezel, Andreas Roos, Ulrike Schara-Schmidt, Christoph Kleinschnitz, Markus Leo, Tim Hagenacke. Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy. Acta neuropathologica. 2023-03-17. PMID:36930296. |
spinal muscular atrophy (sma) is a progressive neuromuscular disorder caused by a loss of the survival of motor neuron 1 (smn1) gene, resulting in a loss of spinal motor neurons (mns), leading to muscle weakness and wasting. |
2023-03-17 |
2023-08-14 |
mouse |
| Richard S Finkel, Basil T Darras, Jerry R Mendell, John W Day, Nancy L Kuntz, Anne M Connolly, Craig Zaidman, Thomas O Crawford, Russell J Butterfield, Perry B Shieh, Gihan Tennekoon, John F Brandsema, Susan T Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A Macek, Sitra Tauscher-Wisniewsk. Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). Journal of neuromuscular diseases. 2023-03-13. PMID:36911944. |
spinal muscular atrophy (sma) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (smn1) genes with variable copies of partially functional smn2 gene. |
2023-03-13 |
2023-08-14 |
Not clear |
| Francesco Chemello, Michela Pozzobon, Lorenza Iolanda Tsansizi, Tatiana Varanita, Rubèn Quintana-Cabrera, Daniele Bonesso, Martina Piccoli, Gerolamo Lanfranchi, Marta Giacomello, Luca Scorrano, Camilla Bea. Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy. Cell death & disease. vol 14. issue 2. 2023-02-27. PMID:36849544. |
dysfunctional mitochondria accumulate in a skeletal muscle knockout model of smn1, the causal gene of spinal muscular atrophy. |
2023-02-27 |
2023-08-14 |
mouse |
| Francesco Chemello, Michela Pozzobon, Lorenza Iolanda Tsansizi, Tatiana Varanita, Rubèn Quintana-Cabrera, Daniele Bonesso, Martina Piccoli, Gerolamo Lanfranchi, Marta Giacomello, Luca Scorrano, Camilla Bea. Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy. Cell death & disease. vol 14. issue 2. 2023-02-27. PMID:36849544. |
the approved gene therapies for spinal muscular atrophy (sma), caused by loss of survival motor neuron 1 (smn1), greatly ameliorate sma natural history but are not curative. |
2023-02-27 |
2023-08-14 |
mouse |