| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Alías, M J Barceló, S Bernal, R Martínez-Hernández, E Also-Rallo, C Vázquez, A Santana, J M Millán, M Baiget, E F Tizzan. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clinical genetics. vol 85. issue 5. 2014-11-21. PMID:23799925. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (smn1). |
2014-11-21 |
2023-08-12 |
Not clear |
| Chiara Zanetta, Monica Nizzardo, Chiara Simone, Erika Monguzzi, Nereo Bresolin, Giacomo P Comi, Stefania Cort. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clinical therapeutics. vol 36. issue 1. 2014-11-04. PMID:24360800. |
spinal muscular atrophy (sma) is an autosomal recessive motor neuron disease caused by mutations in the survival motor neuron gene (smn1) and the leading genetic cause of infant mortality. |
2014-11-04 |
2023-08-12 |
Not clear |
| Xiaoming Yang, Haihong Shen, Xue Gao, Xuexiu Zheng, Ryan Qin, Jianhua Zho. Predominant expression of exon 7 skipped SMN mRNAs in lung based on analysis of transcriptome sequencing datasets. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 35. issue 3. 2014-10-22. PMID:23955098. |
spinal muscular atrophy (sma) is caused by deletion of smn1, one of the two smn (survival of motor neuron) genes. |
2014-10-22 |
2023-08-12 |
human |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
an ashkenazi jewish smn1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. |
2014-10-16 |
2023-08-12 |
Not clear |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
spinal muscular atrophy is a common autosomal-recessive disorder caused by mutations of the smn1 gene. |
2014-10-16 |
2023-08-12 |
Not clear |
| Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J Desnick, Lisa Edelman. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 16. issue 2. 2014-10-16. PMID:23788250. |
spinal muscular atrophy carrier screening uses dosage-sensitive methods that determine smn1 copy number, and the frequency of carriers varies by ethnicity, with detection rates ranging from 71 to 94% due to the inability to identify silent (2 + 0) carriers with two copies of smn1 on one chromosome 5 and deletion on the other. |
2014-10-16 |
2023-08-12 |
Not clear |
| W David Arnold, Xiaokui Mo, Stephen J Kolb, Arthur H Burghes, John T Kisse. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle & nerve. vol 50. issue 3. 2014-10-06. PMID:24934113. |
the motor neuron response to smn1 deficiency in spinal muscular atrophy. |
2014-10-06 |
2023-08-13 |
Not clear |
| Jeremiah Hadwen, Duncan MacKenzie, Fahad Shamim, Kevin Mongeon, Martin Holcik, Alex MacKenzie, Faraz Faroo. VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models. Orphanet journal of rare diseases. vol 9. 2014-09-26. PMID:24405637. |
spinal muscular atrophy (sma) is one of the most common inherited causes of infant death and is caused by the loss of functional survival motor neuron (smn) protein due to mutations or deletion in the smn1 gene. |
2014-09-26 |
2023-08-12 |
mouse |
| Laura Nanna Lohkamp, Katja von Au, Hans-Hilmar Goebel, Wolfram Kress, Ulrike Grieben, Karin Drossel, Lutz Garbes, Brunhilde Wirth, Frank L Heppner, Werner Stenze. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene. Journal of child neurology. vol 29. issue 2. 2014-09-25. PMID:24334346. |
more than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in smn1, the telomeric copy of the smn gene. |
2014-09-25 |
2023-08-12 |
Not clear |
| Laura Nanna Lohkamp, Katja von Au, Hans-Hilmar Goebel, Wolfram Kress, Ulrike Grieben, Karin Drossel, Lutz Garbes, Brunhilde Wirth, Frank L Heppner, Werner Stenze. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene. Journal of child neurology. vol 29. issue 2. 2014-09-25. PMID:24334346. |
however, an intact full-length smn1 complementary deoxyribonucleic acid was identified, and smn protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy iii. |
2014-09-25 |
2023-08-12 |
Not clear |
| Darrick K Li, Sarah Tisdale, Jorge Espinoza-Derout, Luciano Saieva, Francesco Lotti, Livio Pellizzon. A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PloS one. vol 8. issue 8. 2014-09-23. PMID:23967270. |
spinal muscular atrophy (sma) is an inherited neurodegenerative disease caused by homozygous inactivation of the smn1 gene and reduced levels of the survival motor neuron (smn) protein. |
2014-09-23 |
2023-08-12 |
mouse |
| Diana Castro, Susan T Iannaccon. Spinal muscular atrophy: therapeutic strategies. Current treatment options in neurology. vol 16. issue 11. 2014-09-23. PMID:25245431. |
spinal muscular atrophy is caused by mutations in the survival motor neuron 1 (smn1) gene, leading to the reduction of smn protein. |
2014-09-23 |
2023-08-13 |
mouse |
| Nikolai A Naryshkin, Marla Weetall, Amal Dakka, Jana Narasimhan, Xin Zhao, Zhihua Feng, Karen K Y Ling, Gary M Karp, Hongyan Qi, Matthew G Woll, Guangming Chen, Nanjing Zhang, Vijayalakshmi Gabbeta, Priya Vazirani, Anuradha Bhattacharyya, Bansri Furia, Nicole Risher, Josephine Sheedy, Ronald Kong, Jiyuan Ma, Anthony Turpoff, Chang-Sun Lee, Xiaoyan Zhang, Young-Choon Moon, Panayiota Trifillis, Ellen M Welch, Joseph M Colacino, John Babiak, Neil G Almstead, Stuart W Peltz, Loren A Eng, Karen S Chen, Jesse L Mull, Maureen S Lynes, Lee L Rubin, Paulo Fontoura, Luca Santarelli, Daniel Haehnke, Kathleen D McCarthy, Roland Schmucki, Martin Ebeling, Manaswini Sivaramakrishnan, Chien-Ping Ko, Sergey V Paushkin, Hasane Ratni, Irene Gerlach, Anirvan Ghosh, Friedrich Metzge. Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science (New York, N.Y.). vol 345. issue 6197. 2014-08-26. PMID:25104390. |
spinal muscular atrophy (sma) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (smn1) gene. |
2014-08-26 |
2023-08-13 |
mouse |
| Paolo d'Errico, Marina Boido, Antonio Piras, Valeria Valsecchi, Elena De Amicis, Denise Locatelli, Silvia Capra, Francesco Vagni, Alessandro Vercelli, Giorgio Battagli. Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. PloS one. vol 8. issue 12. 2014-07-31. PMID:24324819. |
loss of the survival motor neuron gene (smn1) is responsible for spinal muscular atrophy (sma), the most common inherited cause of infant mortality. |
2014-07-31 |
2023-08-12 |
mouse |
| Cao Yanyan, Qu Yujin, Bai Jinli, Jin Yuwei, Wang Hong, Song Fan. Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. Journal of human genetics. vol 59. issue 1. 2014-07-18. PMID:24172247. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disease in children caused by homozygous deletion of the survival motor neuron 1 gene (smn1). |
2014-07-18 |
2023-08-12 |
human |
| Rocío Ruiz, Lucía Tabare. Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy. Journal of anatomy. vol 224. issue 1. 2014-06-13. PMID:23489475. |
spinal muscular atrophy is a genetic disease which severity depends on the amount of smn protein, the product of the genes smn1 and smn2. |
2014-06-13 |
2023-08-12 |
mouse |
| Guangqun Zeng, Hong Zheng, Jing Cheng, Rong Chen, He Lin, Jiyun Yang, Dingding Zhan. [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 31. issue 2. 2014-06-05. PMID:24711022. |
to assess the association of copy number variations of smn1, smn2, naip, gtf2h2 and h4f5 genes with clinical classification of spinal muscular atrophy in children, and determine the copy number of the smn gene among pregnant women. |
2014-06-05 |
2023-08-13 |
Not clear |
| Kentaro Sahashi, Karen K Y Ling, Yimin Hua, John Erby Wilkinson, Tomoki Nomakuchi, Frank Rigo, Gene Hung, David Xu, Ya-Ping Jiang, Richard Z Lin, Chien-Ping Ko, C Frank Bennett, Adrian R Kraine. Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO molecular medicine. vol 5. issue 10. 2014-06-03. PMID:24014320. |
loss-of-function mutations in smn1 cause spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2014-06-03 |
2023-08-12 |
mouse |
| Peter B Kang, Clifton L Gooch, Michael P McDermott, Basil T Darras, Richard S Finkel, Michele L Yang, Douglas M Sproule, Wendy K Chung, Petra Kaufmann, Darryl C de Viv. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle & nerve. vol 49. issue 5. 2014-05-27. PMID:23893312. |
the motor neuron response to smn1 deficiency in spinal muscular atrophy. |
2014-05-27 |
2023-08-12 |
Not clear |
| Chantal A Mutsaers, Douglas J Lamont, Gillian Hunter, Thomas M Wishart, Thomas H Gillingwate. Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy. Genome medicine. vol 5. issue 10. 2014-05-20. PMID:24134804. |
spinal muscular atrophy (sma) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (smn1) gene. |
2014-05-20 |
2023-08-12 |
human |