| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| K A Quinlan, E J Reedich, W D Arnold, A C Puritz, C F Cavarsan, C J Heckman, C J DiDonat. Hyperexcitability precedes motoneuron loss in the Journal of neurophysiology. vol 122. issue 4. 2020-07-01. PMID:31365319. |
hyperexcitability precedes motoneuron loss in the spinal motoneuron dysfunction and loss are pathological hallmarks of the neuromuscular disease spinal muscular atrophy (sma). |
2020-07-01 |
2023-08-13 |
Not clear |
| Kevin A Kaifer, Eric Villalón, Benjamin S O'Brien, Samantha L Sison, Caley E Smith, Madeline E Simon, Jose Marquez, Siri O'Day, Abigail E Hopkins, Rachel Neff, Hansjörg Rindt, Allison D Ebert, Christian L Lorso. AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/-SMA model mice. Human molecular genetics. vol 28. issue 19. 2020-05-11. PMID:31211843. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in survival motor neuron 1 (smn1). |
2020-05-11 |
2023-08-13 |
mouse |
| Qing L. Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy. Yonsei medical journal. vol 61. issue 4. 2020-04-20. PMID:32233169. |
the reduction of survival motor neuron (smn) protein causes spinal muscular atrophy (sma), an autosomal recessive neuromuscular disease. |
2020-04-20 |
2023-08-13 |
Not clear |
| C Ribstein, D Courteix, N Rabiau, C Bommelaer, Y Bourdeau, B Pereira, Catherine Sarre. Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal "Muscle-Bone Unit" Analysis. Neuropediatrics. vol 49. issue 6. 2019-10-22. PMID:29980148. |
to evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 duchenne muscular dystrophies (dmd) and 2 limb-girdle muscular dystrophies (lgmd); 3 becker muscular dystrophies (bemd) and 7 spinal muscular atrophies (sma). |
2019-10-22 |
2023-08-13 |
Not clear |
| Miaojin Zhou, Zhiqing Hu, Liyan Qiu, Tao Zhou, Mai Feng, Qian Hu, Baitao Zeng, Zhuo Li, Qianru Sun, Yong Wu, Xionghao Liu, Lingqian Wu, Desheng Lian. Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells. Human gene therapy. vol 29. issue 11. 2019-10-10. PMID:29598153. |
spinal muscular atrophy (sma) is a kind of neuromuscular disease characterized by progressive motor neuron loss in the spinal cord. |
2019-10-10 |
2023-08-13 |
human |
| K R Valetdinova, M A Maretina, M L Kuranova, E V Grigor'eva, Y M Minina, E A Kizilova, A V Kiselev, S P Medvedev, V S Baranov, S M Zakia. Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines. Stem cell research. vol 34. 2019-08-06. PMID:30660867. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletion or mutation in smn1 gene. |
2019-08-06 |
2023-08-13 |
human |
| Gamze Bora, Şulenur Subaşı-Yıldız, Ayşe Yeşbek-Kaymaz, Numan Bulut, İpek Alemdaroğlu, Öznur Tunca-Yılmaz, Haluk Topaloğlu, Aynur Ayşe Karaduman, Hayat Erdem-Yurte. Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. Journal of child neurology. vol 33. issue 3. 2019-07-23. PMID:29327642. |
exercise studies in neuromuscular diseases like spinal muscular atrophy (sma), a devastating disease caused by survival of motor neuron 1 ( smn1) gene mutations, are drawing attention due to its beneficial effects. |
2019-07-23 |
2023-08-13 |
Not clear |
| Chia-Yen Wu, David A Gagnon, Juliette S Sardin, Urva Barot, Alex Telenson, Paulo E Arratia, Robert G Kal. Enhancing GABAergic Transmission Improves Locomotion in a eNeuro. vol 5. issue 6. 2019-03-21. PMID:30627660. |
enhancing gabaergic transmission improves locomotion in a spinal muscular atrophy (sma) is a neuromuscular disease characterized by degeneration of spinal motor neurons resulting in variable degrees of muscular wasting and weakness. |
2019-03-21 |
2023-08-13 |
Not clear |
| Rachael A Powis, Evangelia Karyka, Penelope Boyd, Julien Côme, Ross A Jones, Yinan Zheng, Eva Szunyogova, Ewout Jn Groen, Gillian Hunter, Derek Thomson, Thomas M Wishart, Catherina G Becker, Simon H Parson, Cécile Martinat, Mimoun Azzouz, Thomas H Gillingwate. Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI insight. vol 1. issue 11. 2018-09-21. PMID:27699224. |
the autosomal recessive neuromuscular disease spinal muscular atrophy (sma) is caused by loss of survival motor neuron (smn) protein. |
2018-09-21 |
2023-08-13 |
mouse |
| Antonio Piras, Lorenzo Schiaffino, Marina Boido, Valeria Valsecchi, Michela Guglielmotto, Elena De Amicis, Julien Puyal, Ana Garcera, Elena Tamagno, Rosa M Soler, Alessandro Vercell. Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy. Cell death & disease. vol 8. issue 12. 2018-08-27. PMID:29259166. |
spinal muscular atrophy (sma) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (smn1). |
2018-08-27 |
2023-08-13 |
mouse |
| Mawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Naoya Morisada, Shinichiro Yanagisawa, Toshio Saito, Kaori Kaneko, Kayoko Saito, Ichiro Morioka, Kazumoto Iijima, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohar. Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy. The Kobe journal of medical sciences. vol 63. issue 2. 2018-08-27. PMID:29434173. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a mutation in smn1. |
2018-08-27 |
2023-08-13 |
Not clear |
| Paola Bernabò, Toma Tebaldi, Ewout J N Groen, Fiona M Lane, Elena Perenthaler, Francesca Mattedi, Helen J Newbery, Haiyan Zhou, Paola Zuccotti, Valentina Potrich, Hannah K Shorrock, Francesco Muntoni, Alessandro Quattrone, Thomas H Gillingwater, Gabriella Vier. In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell reports. vol 21. issue 4. 2018-06-13. PMID:29069603. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by low levels of smn protein, whose role in pathogenesis remains unclear. |
2018-06-13 |
2023-08-13 |
mouse |
| J Oliveira, M Martins, R Pinto Leite, M Sousa, R Santo. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Clinical genetics. vol 92. issue 4. 2018-05-16. PMID:28218388. |
this confirms ascc1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra. |
2018-05-16 |
2023-08-13 |
Not clear |
| Fazel Shabanpoor, Suzan M Hammond, Frank Abendroth, Gareth Hazell, Matthew J A Wood, Michael J Gai. Identification of a Peptide for Systemic Brain Delivery of a Morpholino Oligonucleotide in Mouse Models of Spinal Muscular Atrophy. Nucleic acid therapeutics. vol 27. issue 3. 2018-05-03. PMID:28118087. |
splice-switching antisense oligonucleotides are emerging treatments for neuromuscular diseases, with several splice-switching oligonucleotides (ssos) currently undergoing clinical trials such as for duchenne muscular dystrophy (dmd) and spinal muscular atrophy (sma). |
2018-05-03 |
2023-08-13 |
mouse |
| C A Wijngaarde, A C Blank, M Stam, R I Wadman, L H van den Berg, W L van der Po. Cardiac pathology in spinal muscular atrophy: a systematic review. Orphanet journal of rare diseases. vol 12. issue 1. 2018-02-12. PMID:28399889. |
hereditary proximal spinal muscular atrophy (sma) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (smn) 1 gene. |
2018-02-12 |
2023-08-13 |
mouse |
| Heidi R Fuller, Thomas H Gillingwater, Thomas M Wishar. Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscular disorders : NMD. vol 26. issue 9. 2018-01-25. PMID:27460344. |
the neuromuscular disease spinal muscular atrophy (sma) is a leading genetic cause of infant mortality, resulting from low levels of full-length survival motor neuron (smn) protein. |
2018-01-25 |
2023-08-13 |
Not clear |
| Xingxing Wu, Shu-Huei Wang, Junjie Sun, Adrian R Krainer, Yimin Hua, Thomas W Prio. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Human molecular genetics. vol 26. issue 14. 2018-01-11. PMID:28460014. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by reduced expression of survival of motor neuron (smn), a protein expressed in humans by two paralogous genes, smn1 and smn2. |
2018-01-11 |
2023-08-13 |
Not clear |
| Xianda Wei, Hu Tan, Pu Yang, Rui Zhang, Bo Tan, Yue Zhang, Libin Mei, Desheng Liang, Lingqian W. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data. Journal of genetic counseling. vol 26. issue 1. 2017-11-16. PMID:27422779. |
spinal muscular atrophy is an autosomal recessive neuromuscular disease mainly caused by homozygous deletion of smn1. |
2017-11-16 |
2023-08-13 |
Not clear |
| Wei L. How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein? PloS one. vol 12. issue 6. 2017-09-26. PMID:28570645. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. |
2017-09-26 |
2023-08-13 |
Not clear |
| Gillian Hunter, Rachael A Powis, Ross A Jones, Ewout J N Groen, Hannah K Shorrock, Fiona M Lane, Yinan Zheng, Diane L Sherman, Peter J Brophy, Thomas H Gillingwate. Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Human molecular genetics. vol 25. issue 13. 2017-09-21. PMID:27170316. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by low levels of smn protein, primarily affecting lower motor neurons. |
2017-09-21 |
2023-08-13 |
mouse |