| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Didu Kariyawasam, Kate A Carey, Kristi J Jones, Michelle A Farra. New and developing therapies in spinal muscular atrophy. Paediatric respiratory reviews. vol 28. 2019-04-03. PMID:29703692. |
great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (sma), including measures to selectively address survival motor neuron (smn) protein deficiency with smn1 gene replacement or modulation of smn2 encoded protein levels, as well as neuroprotective approaches and supporting muscle strength and function. |
2019-04-03 |
2023-08-13 |
Not clear |
| Yin-Hong Zhang, Yun-Qian Zhang, Bao-Sheng Zhu, Jing He, Lei Wang, Xin-Hua Tang, Jing-Jing Guo, Chan-Chan Jin, Hong Chen, Jie Zhang, Jin-Man Zhang, Li L. [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 21. issue 3. 2019-04-03. PMID:30907347. |
[association of copy number of smn1 and smn2 with clinical phenotypes in children with spinal muscular atrophy]. |
2019-04-03 |
2023-08-13 |
Not clear |
| Yin-Hong Zhang, Yun-Qian Zhang, Bao-Sheng Zhu, Jing He, Lei Wang, Xin-Hua Tang, Jing-Jing Guo, Chan-Chan Jin, Hong Chen, Jie Zhang, Jin-Man Zhang, Li L. [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 21. issue 3. 2019-04-03. PMID:30907347. |
to study the association of copy number of smn1 and smn2 with clinical phenotypes in children with spinal muscular atrophy (sma). |
2019-04-03 |
2023-08-13 |
Not clear |
| Hae-Won Son, Toshifumi Yokot. Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy. Methods in molecular biology (Clifton, N.J.). vol 1828. 2019-04-01. PMID:30171534. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a mutation in smn1 that stops production of smn (survival of motor neuron) protein. |
2019-04-01 |
2023-08-13 |
Not clear |
| Kara Goodkey, Tejal Aslesh, Rika Maruyama, Toshifumi Yokot. Nusinersen in the Treatment of Spinal Muscular Atrophy. Methods in molecular biology (Clifton, N.J.). vol 1828. 2019-04-01. PMID:30171535. |
spinal muscular atrophy (sma) is one of the most common genetic causes of infantile death arising due to mutations in the smn1 gene and the subsequent loss of motor neurons. |
2019-04-01 |
2023-08-13 |
Not clear |
| Aleksander Touznik, Rika Maruyama, Toshifumi Yokot. In Vitro Evaluation of Antisense-Mediated Exon Inclusion for Spinal Muscular Atrophy. Methods in molecular biology (Clifton, N.J.). vol 1828. 2019-04-01. PMID:30171558. |
spinal muscular atrophy (sma), the most common gentic cause of infantile death caused by mutations in the smn1 gene, presents a unique case in the field of splice modulation therapy, where a gene (or lack of) is responsible for causing the disease phenotype but treatment is not focused around it. |
2019-04-01 |
2023-08-13 |
Not clear |
| Tejal Aslesh, Rika Maruyama, Toshifumi Yokot. Systemic and ICV Injections of Antisense Oligos into SMA Mice and Evaluation. Methods in molecular biology (Clifton, N.J.). vol 1828. 2019-04-01. PMID:30171559. |
spinal muscular atrophy (sma) is the most common genetic cause of infantile death caused by mutations in the smn1 gene. |
2019-04-01 |
2023-08-13 |
mouse |
| Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Risako Urate, Satoshi Maniwa, Daisuke Usui, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Takatoshi Hosokawa, Yukihiko Konishi, Reiko Arakawa, Kenji Mori, Eiichi Ishii, Kayoko Saito, Hisahide Nishi. Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan. Brain & development. vol 41. issue 1. 2019-03-25. PMID:30093179. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by homozygous mutations in the smn1 gene. |
2019-03-25 |
2023-08-13 |
Not clear |
| Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin, Hong Wang, Fang Son. Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing. Chinese medical journal. vol 131. issue 24. 2019-03-25. PMID:30539904. |
spinal muscular atrophy (sma) is caused by homozygous deletion or compound heterozygous mutation of survival motor neuron gene 1 (smn1), which is the key to diagnose sma. |
2019-03-25 |
2023-08-13 |
Not clear |
| Corey Ruhno, Vicki L McGovern, Matthew R Avenarius, Pamela J Snyder, Thomas W Prior, Flavia C Nery, Abdurrahman Muhtaseb, Jennifer S Roggenbuck, John T Kissel, Valeria A Sansone, Jennifer J Siranosian, Alec J Johnstone, Pann H Nwe, Ren Z Zhang, Kathryn J Swoboda, Arthur H M Burghe. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Human genetics. vol 138. issue 3. 2019-03-25. PMID:30788592. |
spinal muscular atrophy (sma) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (smn1) gene and retention of smn2. |
2019-03-25 |
2023-08-13 |
Not clear |
| Aziza Alrafiah, Maimonah Alghanmi, Sufana Almashhadi, Aqeel Aqeel, Adel Awaj. The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy. Folia histochemica et cytobiologica. vol 56. issue 4. 2019-03-21. PMID:30565205. |
the expression of smn1, mart3, gle1 and fus genes in spinal muscular atrophy. |
2019-03-21 |
2023-08-13 |
Not clear |