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