| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
spinal muscular atrophy (sma) is one of the most common genetic causes of death in infants due to a mutation of the motor neuron 1 (smn1) gene. |
2019-03-21 |
2023-08-13 |
Not clear |
| Garrett Smith, Stephanie K Bell, John T Sladky, Peter B Kang, Mehmet S Albayra. Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. Clinical imaging. vol 53. 2019-03-13. PMID:30340076. |
spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in smn1 that lead to progressive neurodegeneration of anterior horn cells. |
2019-03-13 |
2023-08-13 |
Not clear |
| Ewout J N Groen, Elena Perenthaler, Natalie L Courtney, Crispin Y Jordan, Hannah K Shorrock, Dinja van der Hoorn, Yu-Ting Huang, Lyndsay M Murray, Gabriella Viero, Thomas H Gillingwate. Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy. Human molecular genetics. vol 27. issue 16. 2019-03-08. PMID:29790918. |
spinal muscular atrophy (sma) is a progressive motor neuron disease caused by deleterious variants in smn1 that lead to a marked decrease in survival motor neuron (smn) protein expression. |
2019-03-08 |
2023-08-13 |
mouse |
| Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Pia Gallano, Pablo Fuentes-Prior, Anna Abuli, Clara Serra-Juhe, Eduardo F Tizzan. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. European journal of human genetics : EJHG. vol 26. issue 10. 2019-03-08. PMID:29904179. |
utility of two smn1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. |
2019-03-08 |
2023-08-13 |
Not clear |
| Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March, Pia Gallano, Pablo Fuentes-Prior, Anna Abuli, Clara Serra-Juhe, Eduardo F Tizzan. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. European journal of human genetics : EJHG. vol 26. issue 10. 2019-03-08. PMID:29904179. |
spinal muscular atrophy (sma) is caused by deletions/mutations in smn1. |
2019-03-08 |
2023-08-13 |
Not clear |
| Eike A Strathmann, Miriam Peters, Seyyedmohsen Hosseinibarkooie, Frank W Rigo, C Frank Bennett, Phillip G Zaworski, Karen S Chen, Michael Nothnagel, Brunhilde Wirt. Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PloS one. vol 13. issue 9. 2019-02-19. PMID:30188931. |
spinal muscular atrophy (sma) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (smn1) gene and insufficient functional smn protein produced by the smn2 copy gene. |
2019-02-19 |
2023-08-13 |
mouse |
| Rashin Mohseni, Mahmood Reza Ashrafi, Jafar Ai, Mahin Nikougoftar, Mahmoud Mohammadi, Masood Ghahvechi-Akbari, Alireza Shoae-Hassani, Amir Ali Hamidie. Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A. Journal of molecular neuroscience : MN. vol 67. issue 2. 2019-02-19. PMID:30535775. |
differentiation of admscs into acetylcholine-secreting motoneurons (mns) is a promising treatment for mn diseases, such as spinal muscular atrophy (sma), which is associated with the level of smn1 gene expression. |
2019-02-19 |
2023-08-13 |
Not clear |
| Matthew D Howell, Eric W Ottesen, Natalia N Singh, Rachel L Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M Whitley, Ravindra N Sing. TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy. Scientific reports. vol 7. issue 1. 2019-02-18. PMID:28775379. |
spinal muscular atrophy (sma) is caused by deletions or mutations of survival motor neuron 1 (smn1) gene. |
2019-02-18 |
2023-08-13 |
mouse |
| Vamshi K Rao, Daniel Kapp, Mary Schrot. Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease. Journal of managed care & specialty pharmacy. vol 24. issue 12-a Suppl. 2019-02-18. PMID:30582825. |
spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disease that, in most cases, involves homozygous deletion of the smn1 gene. |
2019-02-18 |
2023-08-13 |
Not clear |