| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |