| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hwang-Shang Kou, Chun-Chi Wan. Molecular inversion probes equipped with discontinuous rolling cycle amplification for targeting nucleotide variants: Determining SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Analytica chimica acta. vol 977. 2018-06-14. PMID:28577599. |
molecular inversion probes equipped with discontinuous rolling cycle amplification for targeting nucleotide variants: determining smn1 and smn2 genes in diagnosis of spinal muscular atrophy. |
2018-06-14 |
2023-08-13 |
human |
| Hwang-Shang Kou, Chun-Chi Wan. Molecular inversion probes equipped with discontinuous rolling cycle amplification for targeting nucleotide variants: Determining SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy. Analytica chimica acta. vol 977. 2018-06-14. PMID:28577599. |
by using mips-drca method, the various gene dosages of smn1 and smn2 genes in homologous or heterologous subjects were successfully quantified for diagnosis of spinal muscular atrophy (sma). |
2018-06-14 |
2023-08-13 |
human |
| Joonbae Seo, Natalia N Singh, Eric W Ottesen, Brian M Lee, Ravindra N Sing. A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein. Scientific reports. vol 6. 2018-05-30. PMID:27481219. |
spinal muscular atrophy (sma), a leading genetic disease of children and infants, is caused by mutations or deletions of survival motor neuron 1 (smn1) gene. |
2018-05-30 |
2023-08-13 |
human |
| Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Nur Imma Fatimah Harahap, Naoya Morisada, Yoshihiro Bouike, Toshio Saito, Yuji Kubo, Kayoko Saito, Poh San Lai, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohar. Spinal muscular atrophy carriers with two SMN1 copies. Brain & development. vol 39. issue 10. 2018-05-22. PMID:28676237. |
spinal muscular atrophy carriers with two smn1 copies. |
2018-05-22 |
2023-08-13 |
Not clear |
| S I Pascual-Pascual, M Garcia-Romer. [Possible treatments for infantile spinal atrophy]. Revista de neurologia. vol 64. issue s03. 2018-05-14. PMID:28524214. |
the new treatments of spinal muscular atrophy (sma) due by smn1 gene deletions are reviewed. |
2018-05-14 |
2023-08-13 |
Not clear |
| Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Kenta Nakanishi, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Poh San Lai, Yasuhiro Takeshima, Atsuko Takeuchi, Yoshihiro Bouike, Maya Okamoto, Hisahide Nishio, Masakazu Shinohar. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. Brain & development. vol 39. issue 9. 2018-05-08. PMID:28522225. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by mutations in smn1. |
2018-05-08 |
2023-08-13 |
Not clear |
| Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmülle. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet journal of rare diseases. vol 12. issue 1. 2018-04-30. PMID:28676062. |
spinal muscular atrophy linked to chromosome 5q (sma) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the smn1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. |
2018-04-30 |
2023-08-13 |
Not clear |
| Anna Farrelly-Rosch, Chew Ling Lau, Nitin Patil, Bradley J Turner, Fazel Shabanpoo. Combination of valproic acid and morpholino splice-switching oligonucleotide produces improved outcomes in spinal muscular atrophy patient-derived fibroblasts. Neurochemistry international. vol 108. 2018-04-13. PMID:28389270. |
spinal muscular atrophy (sma), the leading genetic cause of infant mortality worldwide, is characterised by the homozygous loss of the survival motor neuron 1 (smn1) gene. |
2018-04-13 |
2023-08-13 |
Not clear |
| Xiang Lin, Jin-Jing Li, Wen-Jing Qian, Qi-Jie Zhang, Zhong-Feng Wang, Ying-Qian Lu, En-Lin Dong, Jin He, Ning Wang, Li-Xiang Ma, Wan-Jin Che. Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells. Oncotarget. vol 8. issue 26. 2018-04-06. PMID:28159932. |
spinal muscular atrophy (sma) is a devastating motor neuron disease caused by mutations of the survival motor neuron 1 (smn1) gene. |
2018-04-06 |
2023-08-13 |
human |
| Ingrid E C Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C Jones, Suzanne F Cook, Hanns Lochmülle. A multi-source approach to determine SMA incidence and research ready population. Journal of neurology. vol 264. issue 7. 2018-04-04. PMID:28634652. |
in spinal muscular atrophy (sma), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the smn1 gene. |
2018-04-04 |
2023-08-13 |
Not clear |
| Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Masakazu Shinohara, Toshio Saito, Kayoko Saito, Poh San Lai, Yoshihiro Bouike, Yasuhiro Takeshima, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Atsuko Takeuch. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein. Brain & development. vol 39. issue 7. 2018-04-03. PMID:28366534. |
most spinal muscular atrophy (sma) patients are homozygous for survival of motor neuron 1 gene (smn1) deletion. |
2018-04-03 |
2023-08-13 |
Not clear |
| Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Vebe. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients. Journal of neuromuscular diseases. vol 3. issue 4. 2018-03-15. PMID:27911332. |
spinal muscular atrophy (sma) is caused by homozygous inactivation of the smn1 gene. |
2018-03-15 |
2023-08-13 |
Not clear |
| Jing Li, Yuling Zhu, Yixin Zhan, Yaqin Li, Menglong Chen, Liang Wang, Ruojie He, Cheng Zhan. [Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 34. issue 5. 2018-03-13. PMID:28981927. |
[analysis of smn1 gene mutations in 78 patients with spinal muscular atrophy]. |
2018-03-13 |
2023-08-13 |
Not clear |
| Jing Li, Yuling Zhu, Yixin Zhan, Yaqin Li, Menglong Chen, Liang Wang, Ruojie He, Cheng Zhan. [Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 34. issue 5. 2018-03-13. PMID:28981927. |
to explore the significance of smn1 gene mutations among patients with spinal muscular atrophy (sma) and the value of multiplex ligation dependent probe amplification (mlpa) for its diagnosis. |
2018-03-13 |
2023-08-13 |
Not clear |
| Mehdi Eshraghi, Emily McFall, Sabrina Gibeault, Rashmi Kothar. Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Human molecular genetics. vol 25. issue 20. 2018-02-26. PMID:28172892. |
spinal muscular atrophy (sma) is caused by mutations or deletions in the survival motor neuron 1 (smn1) gene in humans. |
2018-02-26 |
2023-08-13 |
mouse |
| Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li, Xia Tian, Tao Zhang, Weihong Jin, Hanyin Cheng, Xia Wang, Mari Tokita, Pengfei Liu, Hui Mei, Yue Wang, Fangyuan Li, Eric S Schmitt, Wei V Zhang, Donna Muzny, Shu Wen, Zhao Chen, Yaping Yang, Arthur L Beaudet, Xiaoming Liu, Christine M Eng, Fan Xia, Lee-Jun Wong, Jinglan Zhan. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 19. issue 8. 2018-02-23. PMID:28125085. |
the next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic smn1 copy-number and sequence variant analysis by massively parallel sequencing. |
2018-02-23 |
2023-08-13 |
Not clear |
| N N Singh, M D Howell, E J Androphy, R N Sing. How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. Gene therapy. vol 24. issue 9. 2018-02-07. PMID:28485722. |
spinal muscular atrophy (sma), a prominent genetic disease of infant mortality, is caused by low levels of survival motor neuron (smn) protein owing to deletions or mutations of the smn1 gene. |
2018-02-07 |
2023-08-13 |
mouse |
| M Scoto, R S Finkel, E Mercuri, F Munton. Therapeutic approaches for spinal muscular atrophy (SMA). Gene therapy. vol 24. issue 9. 2018-02-07. PMID:28561813. |
spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to severe motor neuron dysfunction, secondary to mutations in the survival motor neuron 1 (smn1) gene. |
2018-02-07 |
2023-08-13 |
Not clear |
| JinLi Bai, YuJin Qu, YanYan Cao, Lan Yang, Lin Ge, YuWei Jin, Hong Wang, Fang Son. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. Gene. vol 644. 2018-01-19. PMID:29080838. |
the smn1 common variant c.22 dupa in chinese patients causes spinal muscular atrophy by nonsense-mediated mrna decay in humans. |
2018-01-19 |
2023-08-13 |
Not clear |
| JinLi Bai, YuJin Qu, YanYan Cao, Lan Yang, Lin Ge, YuWei Jin, Hong Wang, Fang Son. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. Gene. vol 644. 2018-01-19. PMID:29080838. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder that is mostly caused by homozygous deletion of the smn1 gene. |
2018-01-19 |
2023-08-13 |
Not clear |