| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yuhong Zhang, Xu Chen, Qiqi Wang, Congcong Du, Wenbin Lu, Hong Yuan, Zhenzhen Zhang, Danqing Li, Xing Ling, Xiang Ren, Yang Zhao, Qi Su, Zhengcao Xing, Yuanyuan Qin, Xinyi Yang, Yajie Shen, Hongmei Wu, Yitao Q. Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology. Journal of molecular medicine (Berlin, Germany). vol 99. issue 12. 2021-11-22. PMID:34628513. |
spinal muscular atrophy (sma), a degenerative motor neuron disease and a leading cause of infant mortality, is caused by loss of functional survival motor neuron (smn) protein due to smn1 gene mutation. |
2021-11-22 |
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 |
| Gretchen Thomsen, Arthur H M Burghes, Caroline Hsieh, Janet Do, Binh T T Chu, Stephanie Perry, Basam Barkho, Petra Kaufmann, Douglas M Sproule, Douglas E Feltner, Wendy K Chung, Vicki L McGovern, Robert F Hevner, Miriam Conces, Christopher R Pierson, Mariacristina Scoto, Francesco Muntoni, Jerry R Mendell, Kevin D Fous. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nature medicine. vol 27. issue 10. 2021-11-12. PMID:34608334. |
spinal muscular atrophy type 1 (sma1) is a debilitating neurodegenerative disease resulting from survival motor neuron 1 gene (smn1) deletion/mutation. |
2021-11-12 |
2023-08-13 |
human |
| Catherine Elizabeth Pringle, Robert Nelson, Willie Miller, Rashmi Kothary, Jean Michau. Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings. Acta neuropathologica communications. vol 8. issue 1. 2021-11-09. PMID:33168084. |
spinal muscular atrophy (sma) is largely linked to deletion or mutation of the survival motor neuron 1 (smn1) gene located on chromosome 5q13. |
2021-11-09 |
2023-08-13 |
Not clear |
| Thomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, Rong Mao, James D Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T Pham, Victoria M Pratt, Shumaila Qureshi, Deborah Requesens, Junqing Shen, Francesco Vetrini, Lisa Kalma. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project. The Journal of molecular diagnostics : JMD. vol 23. issue 1. 2021-11-08. PMID:33197628. |
spinal muscular atrophy (sma) is an autosomal recessive disorder predominately caused by bi-allelic loss of the smn1 gene. |
2021-11-08 |
2023-08-13 |
human |
| Eric W Ottesen, Ravindra N Sing. Characteristics of circular RNAs generated by human Survival Motor Neuron genes. Cellular signalling. vol 73. 2021-10-25. PMID:32553550. |
low levels of smn due to deletion or mutation of smn1 result in spinal muscular atrophy (sma), a major genetic disease of infants and children. |
2021-10-25 |
2023-08-13 |
human |
| Laura Blasco-Pérez, Ida Paramonov, Jordi Leno, Sara Bernal, Laura Alias, Pablo Fuentes-Prior, Ivon Cuscó, Eduardo F Tizzan. Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Human mutation. vol 42. issue 6. 2021-10-11. PMID:33739559. |
spinal muscular atrophy (sma) is caused by bi-allelic loss or pathogenic variants in the smn1 gene. |
2021-10-11 |
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 |
| Elizabeth A Kichula, Crystal M Proud, Michelle A Farrar, Jennifer M Kwon, Kayoko Saito, Isabelle Desguerre, Hugh J McMilla. Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Muscle & nerve. vol 64. issue 4. 2021-09-28. PMID:34196026. |
spinal muscular atrophy (sma) is an autosomal recessive, neurodegenerative disease caused by biallelic mutations in the survival motor neuron 1 (smn1) gene. |
2021-09-28 |
2023-08-13 |
human |
| 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 |
| Sophie F Hill, Miriam H Meisle. Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders. Developmental neuroscience. vol 43. issue 3-4. 2021-09-16. PMID:34412058. |
the aso nusinersen is a general treatment for mutations of smn1 in spinal muscular atrophy that corrects the splicing defect in the smn2 gene. |
2021-09-16 |
2023-08-13 |
mouse |
| C Rouzier, A Chaussenot, V Paquis-Flucklinge. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 27. issue 7S. 2021-09-13. PMID:33357600. |
spinal muscular atrophy (sma) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the smn1 gene. |
2021-09-13 |
2023-08-13 |
Not clear |
| Kristian T Schafernak, Jeffrey R Jacobsen, Dulce Hernandez, Robin D Kaye, Sylvia E Pere. Cytochemical Characterization of Cerebrospinal Fluid Macrophage Inclusions in Pediatric Patients Receiving Intrathecal Nusinersen (SPINRAZA®) for Spinal Muscular Atrophy. Acta cytologica. 2021-09-13. PMID:34515035. |
spinal muscular atrophy (sma) is a debilitating neuromuscular disorder caused by biallelic deletion of the smn1 gene. |
2021-09-13 |
2023-08-13 |
Not clear |
| Alba Sansa, Sandra de la Fuente, Joan X Comella, Ana Garcera, Rosa M Sole. Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons. Neurobiology of disease. vol 155. 2021-09-02. PMID:33845129. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder caused by loss of the survival motor neuron 1 gene (smn1). |
2021-09-02 |
2023-08-13 |
mouse |
| Shan-Fu Ou, Che-Sheng Ho, Wang-Tso Lee, Kuang-Lin Lin, Cynthia C Jones, Yuh-Jyh Jon. Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study. Brain & development. vol 43. issue 1. 2021-08-31. PMID:32878721. |
spinal muscular atrophy (sma) is caused by a defect in the survival motor neuron 1 (smn1) gene. |
2021-08-31 |
2023-08-13 |
Not clear |
| Anton J Blatnik, Vicki L McGovern, Thanh T Le, Chitra C Iyer, Brian K Kaspar, Arthur H M Burghe. Conditional deletion of SMN in cell culture identifies functional SMN alleles. Human molecular genetics. vol 29. issue 21. 2021-08-31. PMID:33075805. |
spinal muscular atrophy (sma) is caused by mutation or deletion of survival motor neuron 1 (smn1) and retention of smn2 leading to smn protein deficiency. |
2021-08-31 |
2023-08-13 |
mouse |
| Vicki L McGovern, Kaitlyn M Kray, W David Arnold, Sandra I Duque, Chitra C Iyer, Aurélie Massoni-Laporte, Eileen Workman, Aalapi Patel, Daniel J Battle, Arthur H M Burghe. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice. Human molecular genetics. vol 29. issue 21. 2021-08-31. PMID:33084884. |
spinal muscular atrophy is caused by reduced levels of smn resulting from the loss of smn1 and reliance on smn2 for the production of smn. |
2021-08-31 |
2023-08-13 |
mouse |
| Anna A L Motyl, Kiterie M E Faller, Ewout J N Groen, Rachel A Kline, Samantha L Eaton, Leire M Ledahawsky, Helena Chaytow, Douglas J Lamont, Thomas M Wishart, Yu-Ting Huang, Thomas H Gillingwate. Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy. Human molecular genetics. vol 29. issue 16. 2021-08-27. PMID:32644120. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by mutations in survival motor neuron 1 (smn1). |
2021-08-27 |
2023-08-13 |
mouse |
| JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng, Jia Wang, YuWei Jin, Hong Wan. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy. Journal of molecular neuroscience : MN. vol 71. issue 1. 2021-08-27. PMID:32812185. |
dual mechanism of a new smn1 variant (c.835g>c, p.gly279arg) by interrupting exon 7 skipping and yg oligomerization in causation of spinal muscular atrophy. |
2021-08-27 |
2023-08-13 |
Not clear |
| JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng, Jia Wang, YuWei Jin, Hong Wan. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy. Journal of molecular neuroscience : MN. vol 71. issue 1. 2021-08-27. PMID:32812185. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by deletion or subtle variant of survival motor neuron 1 (smn1) gene. |
2021-08-27 |
2023-08-13 |
Not clear |