| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| Eva Janzen, Natalia Mendoza-Ferreira, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Kristina Hupperich, Theresa Tschanz, Vanessa Grysko, Markus Riessland, Matthias Hammerschmidt, Frank Rigo, C Frank Bennett, Min Jeong Kye, Laura Torres-Benito, Brunhilde Wirt. CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain : a journal of neurology. vol 141. issue 8. 2019-07-15. PMID:29961886. |
autosomal recessive spinal muscular atrophy (sma), the leading genetic cause of infant lethality, is caused by homozygous loss of the survival motor neuron 1 (smn1) gene. |
2019-07-15 |
2023-08-13 |
mouse |
| Leslie A Nash, Emily R McFall, Amanda M Perozzo, Maddison Turner, Kathy L Poulin, Yves De Repentigny, Joseph K Burns, Hugh J McMillan, Jodi Warman Chardon, Dylan Burger, Rashmi Kothary, Robin J Park. Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy. Scientific reports. vol 7. issue 1. 2019-07-12. PMID:29066780. |
spinal muscular atrophy (sma) is caused by homozygous mutation of the survival motor neuron 1 (smn1) gene. |
2019-07-12 |
2023-08-13 |
mouse |
| Jianqiang Tan, Xu Zhang, Yuanliu Wang, Shiqiang Luo, Fanghua Yang, Bailing Liu, Ren Ca. [Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 35. issue 4. 2019-06-24. PMID:30098235. |
to screen for carriers of smn1 gene mutation, which underlies spinal muscular atrophy (sma), in 4931 pregnant women from liuzhou region of guangxi, and to determine the carrier rate. |
2019-06-24 |
2023-08-13 |
Not clear |
| Maggie C Walter, Anne Julia Staube. [Spinal muscular atrophy - clinical spectrum and therapy]. Fortschritte der Neurologie-Psychiatrie. vol 86. issue 9. 2019-06-10. PMID:30248687. |
spinal muscular atrophy (sma) is a progressive autosomal recessive motor neuron disease with an incidence of 1:10,000 live births, caused by loss of the survival motor neuron 1 gene (smn1), and represents the most frequent neurodegenerative disorder in children. |
2019-06-10 |
2023-08-13 |
Not clear |
| Christine E Beattie, Stephen J Kol. Spinal muscular atrophy: Selective motor neuron loss and global defect in the assembly of ribonucleoproteins. Brain research. vol 1693. issue Pt A. 2019-06-05. PMID:29462610. |
spinal muscular atrophy is caused by deletions or mutations in the smn1 gene that result in reduced expression of the smn protein. |
2019-06-05 |
2023-08-13 |
Not clear |
| P Sneha, Tanzila U Zenith, Ummay Salma Abu Habib, Judith Evangeline, D Thirumal Kumar, C George Priya Doss, R Siva, Hatem Zaye. Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach. Metabolic brain disease. vol 33. issue 6. 2019-05-09. PMID:30006696. |
impact of missense mutations in survival motor neuron protein (smn1) leading to spinal muscular atrophy (sma): a computational approach. |
2019-05-09 |
2023-08-13 |
Not clear |
| P Sneha, Tanzila U Zenith, Ummay Salma Abu Habib, Judith Evangeline, D Thirumal Kumar, C George Priya Doss, R Siva, Hatem Zaye. Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach. Metabolic brain disease. vol 33. issue 6. 2019-05-09. PMID:30006696. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by the mutations in survival motor neuron 1 gene (smn1). |
2019-05-09 |
2023-08-13 |
Not clear |
| Chun-Chi Wang, Chung-An Chen, Yuh-Jyh Jong, Hwang-Shang Ko. Specific Gene Capture Combined with Restriction-Fragment Release for Directly Fluorescent Genotyping of Single-Nucleotide Polymorphisms in Diagnosing Spinal Muscular Atrophy. Analytical chemistry. vol 90. issue 19. 2019-04-12. PMID:30203652. |
this method was further applied for analyzing smn1 gene in diagnosis of spinal muscular atrophy (sma). |
2019-04-12 |
2023-08-13 |
Not clear |