| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Deepa H Chand, Susan Mitchell, Rui Sun, Nicole LaMarca, Sandra P Reyna, Thao Sutte. Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program. Pediatric neurology. vol 132. 2022-05-23. PMID:35605311. |
spinal muscular atrophy is a rare, neurodegenerative disorder caused by biallelic deletions in the survival motor neuron (smn1) gene. |
2022-05-23 |
2023-08-13 |
Not clear |
| Laura H Comley, Rachel A Kline, Alison K Thomson, Victoria Woschitz, Eric Villalón Landeros, Erkan Y Osman, Christian L Lorson, Lyndsay M Murra. Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy. Human molecular genetics. 2022-05-13. PMID:35551393. |
spinal muscular atrophy (sma) is a childhood motor neuron disease caused by anomalies in the smn1 gene. |
2022-05-13 |
2023-08-13 |
mouse |
| Andrew I Mikhail, Sean Y Ng, Aislin K Osborne, Abbas K Canteenwala, Vladimir Ljubici. Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35560477. |
spinal muscular atrophy (sma) is a debilitating neuromuscular disorder caused by a mutation in the survival motor neuron 1 (smn1) gene and it is the leading genetic cause of infant mortality. |
2022-05-13 |
2023-08-13 |
mouse |
| 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 |
| Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenariu. The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity. Molecular genetics & genomic medicine. 2022-03-15. PMID:35289093. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (smn1) gene. |
2022-03-15 |
2023-08-13 |
Not clear |
| Mengya Zhang, Yanhong Lin, Xiao Zhang, Fenghua Lan, Jian Zen. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay. Clinica chimica acta; international journal of clinical chemistry. 2022-03-06. PMID:35248528. |
premature termination codons in smn1 leading to spinal muscular atrophy trigger nonsense-mediated mrna decay. |
2022-03-06 |
2023-08-13 |
Not clear |
| Mengya Zhang, Yanhong Lin, Xiao Zhang, Fenghua Lan, Jian Zen. Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay. Clinica chimica acta; international journal of clinical chemistry. 2022-03-06. PMID:35248528. |
spinal muscular atrophy is an autosomal recessive neurodegenerative disorder caused by smn1 gene mutations. |
2022-03-06 |
2023-08-13 |
Not clear |
| I Pitarch Castellano, M Cabrera-Serrano, R Calvo Medina, M G Cattinari, S Espinosa García, J A Fernández-Ramos, O García Campos, D Gómez-Andrés, M A Grimalt Calatayud, A J Gutiérrez Martínez, E Ibáñez Albert, S Kapetanovic García, M Madruga-Garrido, M Martínez-Moreno, J Medina Cantillo, A I Melián Suárez, A Moreno Escribano, F Munell, A Nascimento Osorio, S I Pascual-Pascual, M Povedano, I M Santana Casiano, J F Vázquez-Cost. Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus). Neurologia (Barcelona, Spain). 2022-03-04. PMID:35241415. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by a biallelic mutation of the smn1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. |
2022-03-04 |
2023-08-13 |
Not clear |
| Mei W Baker, Sean T Mochal, Sandra J Dawe, Amy E Wiberley-Bradford, Michael F Cogley, Bethany R Zeitler, Zachary D Piro, Mathew M Harmelink, Jennifer M Kwo. Newborn screening for spinal muscular atrophy: The Wisconsin first year experience. Neuromuscular disorders : NMD. 2022-02-05. PMID:35120759. |
this comprehensive approach, providing both timely smn2 information and smn1 and smn2 confirmation as parts of the algorithm for spinal muscular atrophy newborn screening, facilitated timely clinical follow-up, family counseling, and treatment planning. |
2022-02-05 |
2023-08-13 |
Not clear |
| Pascal Martin, Veronka Horber, Joohyun Park, Cornelius Kronlage, Alexander Grim. [Spinal muscular atrophy]. Der Nervenarzt. 2022-01-17. PMID:35037967. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by biallelic mutations in the smn1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem. |
2022-01-17 |
2023-08-13 |
Not clear |
| C Lefeuvre, M Brisset, M Sarlon, N Petit, D Orlikowski, B Clair, T Thiry, R-Y Carlier, H Prigent, G Nicolas, D Annane, P Laforet, S Poupli. Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study. Revue neurologique. 2022-01-10. PMID:35000792. |
spinal muscular atrophy (sma) is a progressive neurodegenerative disease due to homozygous loss-of-function of the survival motor neuron gene smn1 with absence of the functional smn protein. |
2022-01-10 |
2023-08-13 |
Not clear |
| Vasileios Papaliagkas, Nikolaos Foroglou, Petros Toulios, Maria Moschou, Maria Gavriilaki, Konstantinos Notas, Evangelia Chatzikyriakou, Georgia Zafeiridou, Marianthi Arnaoutoglou, Vasilios K Kimiskidi. Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity. Case reports in neurology. vol 13. issue 3. 2021-12-24. PMID:34950009. |
spinal muscular atrophy (sma) is a hereditary neuromuscular disorder, typically caused by survival motor neuron 1 (smn1) gene deletion in chromosome 5q resulting in loss of smn protein. |
2021-12-24 |
2023-08-13 |
Not clear |
| M A Maretina, K R Valetdinova, N A Tsyganova, A A Egorova, V S Ovechkina, H B Schiöth, S M Zakian, V S Baranov, A V Kisele. Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC. Gene. vol 811. 2021-12-11. PMID:34871761. |
spinal muscular atrophy is a progressive motor neuron disorder caused by deletions or point mutations in the smn1 gene. |
2021-12-11 |
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 |
| Sheridan M Ho. Nusinersen: A Review in 5q Spinal Muscular Atrophy. CNS drugs. vol 35. issue 12. 2021-12-06. PMID:34850360. |
a deletion or mutation in smn1 results in a rare neuromuscular disorder: 5q spinal muscular atrophy (sma). |
2021-12-06 |
2023-08-13 |
Not clear |
| Sabrina B Frederiksen, Lise L Holm, Martin R Larsen, Thomas K Doktor, Henriette S Andersen, Michelle L Hastings, Yimin Hua, Adrian R Krainer, Brage S Andrese. Identification of SRSF10 as a regulator of SMN2 ISS-N1. Human mutation. vol 42. issue 3. 2021-11-30. PMID:33300159. |
the smn1 and smn2 silencer element iss-n1 is the target of the antisense oligonucleotide drug, spinraza, which is the treatment against spinal muscular atrophy. |
2021-11-30 |
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 |