| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M Abbott, Henny H Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M Van Deerlin, Huiping Zhu, Gary J Latha. Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants. The Journal of molecular diagnostics : JMD. vol 23. issue 6. 2021-06-30. PMID:33798739. |
spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the smn1 gene. |
2021-06-30 |
2023-08-13 |
human |
| John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M Abbott, Henny H Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M Van Deerlin, Huiping Zhu, Gary J Latha. Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants. The Journal of molecular diagnostics : JMD. vol 23. issue 6. 2021-06-30. PMID:33798739. |
the emergence of multiple precision gene therapies for spinal muscular atrophy requires accurate and rapid detection of smn1 and smn2 copy numbers to enable early treatment and optimal patient outcomes. |
2021-06-30 |
2023-08-13 |
human |
| Jianyan Pan, Chunhua Zhang, Yanling Teng, Sijing Zeng, Siyi Chen, Desheng Liang, Zhuo Li, Lingqian W. Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers. Annals of laboratory medicine. vol 41. issue 1. 2021-06-29. PMID:32829585. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (smn1) gene. |
2021-06-29 |
2023-08-13 |
Not clear |
| Mayank Nilay, Amita Moirangthem, Deepti Saxena, Kausik Mandal, Shubha R Phadk. Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program. American journal of medical genetics. Part A. vol 185. issue 1. 2021-06-29. PMID:33051992. |
chromosome 5q related spinal muscular atrophy (sma) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of smn1 gene. |
2021-06-29 |
2023-08-13 |
human |
| Rachel James, Helena Chaytow, Leire M Ledahawsky, Thomas H Gillingwate. Revisiting the role of mitochondria in spinal muscular atrophy. Cellular and molecular life sciences : CMLS. vol 78. issue 10. 2021-06-22. PMID:33821292. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease of variable clinical severity that is caused by mutations in the survival motor neuron 1 (smn1) gene. |
2021-06-22 |
2023-08-13 |
Not clear |
| Sunggyun Park, Hyeonah Lee, Saeam Shin, Seung-Tae Lee, Kyung-A Lee, Jong Rak Cho. Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry. vol 510. 2021-06-21. PMID:32956702. |
spinal muscular atrophy (sma) is a progressive motor neuron disease caused by homozygote loss of exon 7 on the survival motor neuron 1 (smn1) gene. |
2021-06-21 |
2023-08-13 |
Not clear |
| Fabrício Castro de Borba, Giorgia Querin, Marcondes Cavalcante França, Pierre-François Prada. Cerebellar degeneration in adult spinal muscular atrophy patients. Journal of neurology. vol 267. issue 9. 2021-06-18. PMID:32388834. |
spinal muscular atrophy (sma) is a genetic motor neuron disease related to deletions in the smn1 gene. |
2021-06-18 |
2023-08-13 |
Not clear |
| Shiori Ando, Miruto Tanaka, Naoki Chinen, Shinsuke Nakamura, Masamitsu Shimazawa, Hideaki Har. SMN Protein Contributes to Skeletal Muscle Cell Maturation In vivo (Athens, Greece). vol 34. issue 6. 2021-06-18. PMID:33144430. |
smn protein contributes to skeletal muscle cell maturation in spinal muscular atrophy (sma), systemic deficiency of survival motor neurons (smn) caused by loss or mutation of smn1 leads to sma symptoms. |
2021-06-18 |
2023-08-13 |
Not clear |
| Yogik Onky Silvana Wijaya, Mawaddah Ar Rohmah, Emma Tabe Eko Niba, Naoya Morisada, Yoriko Noguchi, Yasufumi Hidaka, Shiro Ozasa, Takeshi Inoue, Tomoyuki Shimazu, Yuya Takahashi, Takenori Tozawa, Tomohiro Chiyonobu, Takushi Inoue, Tomoyoshi Shiroshita, Atsushi Yokoyama, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Hisahide Nishio, Masakazu Shinohar. Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development. vol 43. issue 7. 2021-06-17. PMID:33892995. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the smn1 gene. |
2021-06-17 |
2023-08-13 |
Not clear |
| María T Berciano, María S Castillo-Iglesias, J Fernando Val-Bernal, Vanesa Lafarga, José C Rodriguez-Rey, Miguel Lafarga, Olga Tapi. Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere. Cell and tissue research. vol 381. issue 3. 2021-05-28. PMID:32676861. |
spinal muscular atrophy (sma) is caused by a deletion or mutation of the survival motor neuron 1 (smn1) gene. |
2021-05-28 |
2023-08-13 |
mouse |
| Ahmet Cevdet Ceylan, Haktan Bağış Erdem, İbrahim Şahin, Meenal Agarwa. SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 41. issue 9. 2021-05-14. PMID:32249332. |
smn1 gene copy number analysis for spinal muscular atrophy (sma) in a turkish cohort by code-seq technology, an integrated solution for detection of smn1 and smn2 copy numbers and the "2+0" genotype. |
2021-05-14 |
2023-08-13 |
Not clear |
| Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoc. Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Molecular genetics & genomic medicine. vol 8. issue 7. 2021-04-30. PMID:32337852. |
spinal muscular atrophy caused by a novel alu-mediated deletion of exons 2a-5 in smn1 undetectable with routine genetic testing. |
2021-04-30 |
2023-08-13 |
Not clear |
| Annarita Miccio, Panagiotis Antoniou, Sorana Ciura, Edor Kabash. Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges. Molecular therapy : the journal of the American Society of Gene Therapy. 2021-04-29. PMID:33823304. |
spinal muscular atrophy (sma) is caused by smn1 gene mutations leading to lowered smn expression. |
2021-04-29 |
2023-08-13 |
Not clear |
| Xiao Chen, Alba Sanchis-Juan, Courtney E French, Andrew J Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L Halpern, Ryan J Taft, David R Bentley, Matthew E R Butchbach, F Lucy Raymond, Michael A Eberl. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 5. 2021-04-27. PMID:32066871. |
spinal muscular atrophy (sma), caused by loss of the smn1 gene, is a leading cause of early childhood death. |
2021-04-27 |
2023-08-13 |
Not clear |
| Abul Kalam Azad, Chih-Kang Huang, Hong Jin, Hongwei Zou, Lindsay Yanakakis, Juan Du, Morry Fiddler, Rizwan Naeem, Yitz Goldstei. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. Laboratory medicine. vol 51. issue 4. 2021-04-20. PMID:31875889. |
enhanced carrier screening for spinal muscular atrophy: detection of silent (smn1: 2 + 0) carriers utilizing a novel taqman genotyping method. |
2021-04-20 |
2023-08-13 |
Not clear |
| Abul Kalam Azad, Chih-Kang Huang, Hong Jin, Hongwei Zou, Lindsay Yanakakis, Juan Du, Morry Fiddler, Rizwan Naeem, Yitz Goldstei. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method. Laboratory medicine. vol 51. issue 4. 2021-04-20. PMID:31875889. |
individuals whose copies of the survival motor neuron 1 (smn1) gene exist on the same chromosome are considered silent carriers for spinal muscular atrophy (sma). |
2021-04-20 |
2023-08-13 |
Not clear |
| Yan Xu, Bing Xiao, Yu Liu, Xiao-Xing Qu, Meng-Yao Dai, Xiao-Min Ying, Wen-Ting Jiang, Jing-Min Zhang, Xiao-Qing Liu, Ying-Wei Chen, Xing J. Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR. Neuromuscular disorders : NMD. vol 30. issue 3. 2021-04-08. PMID:32169315. |
spinal muscular atrophy (sma) is caused by homozygous deletions of the smn1 gene in approximately 95% of patients. |
2021-04-08 |
2023-08-13 |
Not clear |
| Wei-Fang Chang, Min Peng, Jing Hsu, Jie Xu, Huan-Chieh Cho, Hsiu-Mei Hsieh-Li, Ji-Long Liu, Chung-Hao Lu, Li-Ying Sun. Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human. International journal of molecular sciences. vol 22. issue 2. 2021-04-06. PMID:33440839. |
a severe neurogenic disease, spinal muscular atrophy (sma), is caused by the loss or mutation of smn1 that specifically occurred in humans. |
2021-04-06 |
2023-08-13 |
mouse |
| Sandra de la Fuente, Alba Sansa, Iván Hidalgo, Nuria Vivancos, Ricardo Romero-Guevara, Ana Garcera, Rosa M Sole. Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models. Cell death & disease. vol 11. issue 6. 2021-03-18. PMID:32587237. |
spinal muscular atrophy (sma) is a severe neuromuscular disorder caused by loss of the survival motor neuron 1 (smn1) gene. |
2021-03-18 |
2023-08-13 |
mouse |
| Cao Yanyan, Cheng Miaomiao, Song Fang, Qu Yujin, Bai Jinli, Wang Hon. Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype. Yi chuan = Hereditas. vol 43. issue 2. 2021-03-18. PMID:33724218. |
familial study of spinal muscular atrophy carriers with smn1 (2+0) genotype. |
2021-03-18 |
2023-08-13 |
Not clear |