| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá, Francisco J Rodríguez-Álvarez, Elena Aller, Raquel M Fernández, Salud Borrego, José M Millán, Concepción Hernández-Chico, Ivon Cuscó, Pablo Fuentes-Prior, Eduardo F Tizzan. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscular disorders : NMD. vol 28. issue 3. 2019-10-21. PMID:29433793. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by loss or mutations in smn1. |
2019-10-21 |
2023-08-13 |
Not clear |
| J Oriol Narcís, Olga Tapia, Olga Tarabal, Lídia Piedrafita, Jordi Calderó, Maria T Berciano, Miguel Lafarg. Accumulation of poly(A) RNA in nuclear granules enriched in Sam68 in motor neurons from the SMNΔ7 mouse model of SMA. Scientific reports. vol 8. issue 1. 2019-10-16. PMID:29941967. |
spinal muscular atrophy (sma) is a severe motor neuron (mn) disease caused by the deletion or mutation of the survival motor neuron 1 (smn1) gene, which results in reduced levels of the smn protein and the selective degeneration of lower mns. |
2019-10-16 |
2023-08-13 |
mouse |
| 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. |
seamless genetic conversion of smn2 to smn1 via crispr/cpf1 and single-stranded oligodeoxynucleotides in spinal muscular atrophy patient-specific induced pluripotent stem cells. |
2019-10-10 |
2023-08-13 |
human |
| Sheridan M Ho. Nusinersen: A Review in 5q Spinal Muscular Atrophy. CNS drugs. vol 32. issue 7. 2019-10-10. PMID:30027400. |
spinal muscular atrophy (sma) is a rare autosomal recessive neuromuscular disorder most commonly caused by a deletion or mutation in the survival motor neuron 1 (smn1) gene, which leads to insufficient levels of survival motor neuron (smn) protein. |
2019-10-10 |
2023-08-13 |
Not clear |
| María S Castillo-Iglesias, María T Berciano, J Oriol Narcis, J Fernando Val-Bernal, José C Rodriguez-Rey, Olga Tapia, Miguel Lafarg. Reorganization of the nuclear compartments involved in transcription and RNA processing in myonuclei of type I spinal muscular atrophy. Histochemistry and cell biology. vol 152. issue 3. 2019-10-10. PMID:31183542. |
type i spinal muscular atrophy (sma) is an autosomal recessive disorder caused by the loss or mutation of the survival motor neuron 1 (smn1) gene. |
2019-10-10 |
2023-08-13 |
human |
| Chiara F Valori, Giulia Guidotti, Liliana Brambilla, Daniela Ross. Astrocytes in Motor Neuron Diseases. Advances in experimental medicine and biology. vol 1175. 2019-10-08. PMID:31583591. |
on the contrary, the huge majority of spinal muscular atrophy (sma) occurrences are caused by loss-of-function mutations in a single gene, smn1. |
2019-10-08 |
2023-08-13 |
Not clear |
| Federica Rizzo, Monica Nizzardo, Shikha Vashisht, Erika Molteni, Valentina Melzi, Michela Taiana, Sabrina Salani, Pamela Santonicola, Elia Di Schiavi, Monica Bucchia, Andreina Bordoni, Irene Faravelli, Nereo Bresolin, Giacomo Pietro Comi, Uberto Pozzoli, Stefania Cort. Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons. Brain : a journal of neurology. vol 142. issue 2. 2019-09-19. PMID:30649277. |
spinal muscular atrophy is a motor neuron disorder caused by mutations in smn1. |
2019-09-19 |
2023-08-13 |
mouse |
| Natalia Rodriguez-Muela, Andrey Parkhitko, Tobias Grass, Rebecca M Gibbs, Erika M Norabuena, Norbert Perrimon, Rajat Singh, Lee L Rubi. Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes. The Journal of clinical investigation. vol 128. issue 7. 2019-09-16. PMID:29672276. |
spinal muscular atrophy (sma), a degenerative motor neuron (mn) disease, caused by loss of functional survival of motor neuron (smn) protein due to smn1 gene mutations, is a leading cause of infant mortality. |
2019-09-16 |
2023-08-13 |
mouse |
| Charlotte J Sumner, Thomas O Crawfor. Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain. The Journal of clinical investigation. vol 128. issue 8. 2019-09-10. PMID:29985170. |
the motor neuron disease spinal muscular atrophy (sma) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 gene (smn1). |
2019-09-10 |
2023-08-13 |
Not clear |
| Sandra de la Fuente, Alba Sansa, Ambika Periyakaruppiah, Ana Garcera, Rosa M Sole. Calpain Inhibition Increases SMN Protein in Spinal Cord Motoneurons and Ameliorates the Spinal Muscular Atrophy Phenotype in Mice. Molecular neurobiology. vol 56. issue 6. 2019-08-29. PMID:30327977. |
spinal muscular atrophy (sma), a leading genetic cause of infant death, is caused by the loss of survival motor neuron 1 (smn1) gene. |
2019-08-29 |
2023-08-13 |
mouse |
| 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 |