| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Annapoorna Kannan, Xiaoting Jiang, Lan He, Saif Ahmad, Laxman Gangwan. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31828288. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by homozygous mutation or deletion of the survival motor neuron 1 (smn1) gene. |
2020-08-18 |
2023-08-13 |
mouse |
| Mert Karakaya, Cem Paketci, Janine Altmueller, Holger Thiele, Irmgard Hoelker, Uluc Yis, Brunhilde Wirt. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. American journal of medical genetics. Part A. vol 179. issue 8. 2020-07-28. PMID:31102495. |
infantile hereditary lower motor neuron disorders beyond 5q-spinal muscular atrophy (5q-sma) are usually caused by mutations other than deletions or mutations in smn1. |
2020-07-28 |
2023-08-13 |
Not clear |
| A L Frongia, D Natera-de Benito, C Ortez, M Alarcón, A Borrás, J Medina, M Vigo, N Padrós, O Moya, J Armas, L Carrera-García, J Expósito-Escudero, D Cuadras, S Bernal, L Martorell, J Colomer, A Nasciment. Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II. Neuromuscular disorders : NMD. vol 29. issue 7. 2020-07-27. PMID:31201046. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in smn1, which result in a degeneration of motor neurons in the spinal cord and brain stem. |
2020-07-27 |
2023-08-13 |
Not clear |
| Natalie L Courtney, Alannah J Mole, Alison K Thomson, Lyndsay M Murra. Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy. Cell death & disease. vol 10. issue 7. 2020-07-06. PMID:31273192. |
spinal muscular atrophy (sma) is a childhood motor neuron disease caused by mutations or deletions within the smn1 gene. |
2020-07-06 |
2023-08-13 |
mouse |
| Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956255. |
spinal muscular atrophy: new screening system with real-time mcop-pcr and pcr-rflp for smn1 deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohar. Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956256. |
spinal muscular atrophy: advanced version of screening system with real-time mcop-pcr and pcr-rflp for smn1 deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohar. Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA. The Kobe journal of medical sciences. vol 65. issue 2. 2020-06-15. PMID:31956257. |
spinal muscular atrophy (sma) is a common autosomal recessive disorder caused by smn1 gene deletion. |
2020-06-15 |
2023-08-13 |
Not clear |
| Renske I Wadman, W Ludo van der Pol, Wendy Mj Bosboom, Fay-Lynn Asselman, Leonard H van den Berg, Susan T Iannaccone, Alexander Fje Vrancke. Drug treatment for spinal muscular atrophy types II and III. The Cochrane database of systematic reviews. vol 1. 2020-06-12. PMID:32006461. |
spinal muscular atrophy (sma) is caused by a homozygous deletion of the survival motor neuron 1 (smn1) gene on chromosome 5, or a heterozygous deletion in combination with a (point) mutation in the second smn1 allele. |
2020-06-12 |
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 |
| Renske I Wadman, W Ludo van der Pol, Wendy Mj Bosboom, Fay-Lynn Asselman, Leonard H van den Berg, Susan T Iannaccone, Alexander Fje Vrancke. Drug treatment for spinal muscular atrophy type I. The Cochrane database of systematic reviews. vol 12. 2020-05-01. PMID:31825542. |
drug treatment for spinal muscular atrophy type i. spinal muscular atrophy (sma) is caused by a homozygous deletion of the survival motor neuron 1 (smn1) gene on chromosome 5, or a heterozygous deletion in combination with a point mutation in the second smn1 allele. |
2020-05-01 |
2023-08-13 |
Not clear |
| Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André M S Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanotel. Severe brain involvement in 5q spinal muscular atrophy type 0. Annals of neurology. vol 86. issue 3. 2020-04-13. PMID:31301241. |
spinal muscular atrophy (sma) type 0 is the most severe form of sma, associated with the smn1 gene and manifesting at birth. |
2020-04-13 |
2023-08-13 |
Not clear |
| Maggie C Walter, Stephan Wenninger, Simone Thiele, Julia Stauber, Miriam Hiebeler, Eva Greckl, Kristina Stahl, Astrid Pechmann, Hanns Lochmüller, Janbernd Kirschner, Benedikt Schose. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study. Journal of neuromuscular diseases. vol 6. issue 4. 2020-04-13. PMID:31594243. |
spinal muscular atrophy (sma) is a progressive autosomal recessive motor neuron disease caused by loss of the smn1 gene. |
2020-04-13 |
2023-08-13 |
Not clear |
| Vittoria Pagliarini, Ariane Jolly, Pamela Bielli, Valentina Di Rosa, Pierre De la Grange, Claudio Sett. Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization. Nucleic acids research. vol 48. issue 2. 2020-03-18. PMID:31777926. |
the spinal muscular atrophy (sma) gene smn was recently duplicated (smn1 and smn2) in higher primates. |
2020-03-18 |
2023-08-13 |
mouse |
| Ye Seul Son, Kwangman Choi, Hana Lee, Ohman Kwon, Kwang Bo Jung, Sunwha Cho, Jiyeon Baek, Bora Son, Sung-Min Kang, Mingu Kang, Jihee Yoon, Haihong Shen, Sangku Lee, Jung-Hwa Oh, Hyang-Ae Lee, Mi-Ok Lee, Hyun-Soo Cho, Cho-Rok Jung, Janghwan Kim, Sungchan Cho, Mi-Young So. A SMN2 Splicing Modifier Rescues the Disease Phenotypes in an In Vitro Human Spinal Muscular Atrophy Model. Stem cells and development. vol 28. issue 7. 2020-03-05. PMID:30667343. |
spinal muscular atrophy (sma) is caused by the mutation or deletion of the survival motor neuron 1 (smn1) gene. |
2020-03-05 |
2023-08-13 |
human |
| Natalia N Singh, Ravindra N Sing. How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene. Biochimica et biophysica acta. Gene regulatory mechanisms. vol 1862. issue 11-12. 2020-02-20. PMID:31323435. |
deletion or mutation of smn1 coupled with the inability of smn2 to compensate for the loss of smn1 due to exon 7 skipping causes spinal muscular atrophy (sma), one of the leading genetic diseases of children. |
2020-02-20 |
2023-08-13 |
Not clear |
| Jin Hui Hor, Eunice Shi-Yi Soh, Li Yi Tan, Valerie Jing Wen Lim, Munirah Mohamad Santosa, Winanto, Beatrice Xuan Ho, Yong Fan, Boon-Seng Soh, Shi-Yan N. Cell cycle inhibitors protect motor neurons in an organoid model of Spinal Muscular Atrophy. Cell death & disease. vol 9. issue 11. 2019-12-10. PMID:30368521. |
spinal muscular atrophy (sma) is caused by genetic mutations in the smn1 gene, resulting in drastically reduced levels of survival of motor neuron (smn) protein. |
2019-12-10 |
2023-08-13 |
Not clear |
| Irving Donadon, Erica Bussani, Federico Riccardi, Danilo Licastro, Giulia Romano, Giulia Pianigiani, Mirko Pinotti, Pavlina Konstantinova, Melvin Evers, Shuo Lin, Markus A Rüegg, Franco Pagan. Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA. Nucleic acids research. vol 47. issue 14. 2019-12-09. PMID:31127278. |
spinal muscular atrophy results from loss-of-function mutations in smn1 but correcting aberrant splicing of smn2 offers hope of a cure. |
2019-12-09 |
2023-08-13 |
mouse |
| Nicole Holuba Lamarca, Lauren Golden, Rita Marie John, Ali Naini, Darryl C De Vivo, Douglas M Sproul. Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation? Journal of child neurology. vol 28. issue 11. 2019-11-20. PMID:23034979. |
spinal muscular atrophy is an autosomal recessive neurodegenerative disease caused by homozygous mutation to the survival motor neuron 1 (smn1) gene. |
2019-11-20 |
2023-08-12 |
Not clear |
| Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Ying Qian, Thomas Sejerse. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular disorders : NMD. vol 28. issue 2. 2019-11-14. PMID:29290580. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (smn1) gene. |
2019-11-14 |
2023-08-13 |
Not clear |
| K R Valetdinova, V S Ovechkina, S M Zakia. Methods for Correction of the Single-Nucleotide Substitution c.840C>T in Exon 7 of the SMN2 Gene. Biochemistry. Biokhimiia. vol 84. issue 9. 2019-11-14. PMID:31693467. |
one of the prospective models for the crispr/cas-mediated therapy is spinal muscular atrophy (sma), a disease caused by deletion of the smn1 gene that encodes the smn protein required for the survival of motor neurons. |
2019-11-14 |
2023-08-13 |
Not clear |