| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| James P Van Meerbeke, Rebecca M Gibbs, Heather L Plasterer, Wenyan Miao, Zhihua Feng, Ming-Yi Lin, Agnieszka A Rucki, Claribel D Wee, Bing Xia, Shefali Sharma, Vincent Jacques, Darrick K Li, Livio Pellizzoni, James R Rusche, Chien-Ping Ko, Charlotte J Sumne. The DcpS inhibitor RG3039 improves motor function in SMA mice. Human molecular genetics. vol 22. issue 20. 2014-04-22. PMID:23727836. |
spinal muscular atrophy (sma) is caused by mutations of the survival motor neuron 1 (smn1) gene, retention of the survival motor neuron 2 (smn2) gene and insufficient expression of full-length survival motor neuron (smn) protein. |
2014-04-22 |
2023-08-12 |
mouse |
| Rocky G Gogliotti, Herminio Cardona, Jasbir Singh, Sophie Bail, Carina Emery, Nancy Kuntz, Michael Jorgensen, Madel Durens, Bing Xia, Courtenay Barlow, Christopher R Heier, Heather L Plasterer, Vincent Jacques, Megerditch Kiledjian, Jill Jarecki, James Rusche, Christine J DiDonat. The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Human molecular genetics. vol 22. issue 20. 2014-04-22. PMID:23736298. |
spinal muscular atrophy (sma) is caused by insufficient levels of the survival motor neuron (smn) protein due to the functional loss of the smn1 gene and the inability of its paralog, smn2, to fully compensate due to reduced exon 7 splicing efficiency. |
2014-04-22 |
2023-08-12 |
mouse |
| Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Vebe. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. Human mutation. vol 32. issue 9. 2014-04-17. PMID:21542063. |
a leaky splicing mutation affecting smn1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. |
2014-04-17 |
2023-08-12 |
Not clear |
| Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Vebe. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. Human mutation. vol 32. issue 9. 2014-04-17. PMID:21542063. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder resulting, in most cases, from homozygous deletions of the smn1 gene or, in rare cases, from smn1 intragenic mutations. |
2014-04-17 |
2023-08-12 |
Not clear |
| Galina Y Zheleznyakova, Sarah Voisin, Anton V Kiselev, Markus Sällman Almén, Miguel J Xavier, Marianna A Maretina, Lyudmila I Tishchenko, Robert Fredriksson, Vladislav S Baranov, Helgi B Schiöt. Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. European journal of human genetics : EJHG. vol 21. issue 9. 2014-03-24. PMID:23299920. |
spinal muscular atrophy (sma) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (smn1) deletion. |
2014-03-24 |
2023-08-12 |
Not clear |
| Jered V McGivern, Teresa N Patitucci, Joshua A Nord, Marie-Elizabeth A Barabas, Cheryl L Stucky, Allison D Eber. Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia. vol 61. issue 9. 2014-02-21. PMID:23839956. |
spinal muscular atrophy (sma) is a genetic disorder caused by the deletion of the survival motor neuron 1 (smn1) gene that leads to loss of motor neurons in the spinal cord. |
2014-02-21 |
2023-08-12 |
mouse |
| Joonbae Seo, Matthew D Howell, Natalia N Singh, Ravindra N Sing. Spinal muscular atrophy: an update on therapeutic progress. Biochimica et biophysica acta. vol 1832. issue 12. 2014-02-20. PMID:23994186. |
deletion or mutation of smn1 combined with the inability of smn2 to compensate for the loss of smn1 results in spinal muscular atrophy (sma), a leading genetic cause of infant mortality. |
2014-02-20 |
2023-08-12 |
Not clear |
| Susan M Kirwin, Kathy M B Vinette, Iris L Gonzalez, Hind Al Abdulwahed, Nouriya Al-Sannaa, Vicky L Funanag. A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. Molecular genetics & genomic medicine. vol 1. issue 2. 2014-02-05. PMID:24498607. |
spinal muscular atrophy (sma), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of smn1 copy number. |
2014-02-05 |
2023-08-12 |
Not clear |
| Florence Rage, Nawal Boulisfane, Khalil Rihan, Henry Neel, Thierry Gostan, Edouard Bertrand, Rémy Bordonné, Johann Sore. Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization. RNA (New York, N.Y.). vol 19. issue 12. 2014-01-17. PMID:24152552. |
spinal muscular atrophy is a neuromuscular disease resulting from mutations in the smn1 gene, which encodes the survival motor neuron (smn) protein. |
2014-01-17 |
2023-08-12 |
Not clear |
| Kristien Peeters, Ivan Litvinenko, Bob Asselbergh, Leonardo Almeida-Souza, Teodora Chamova, Thomas Geuens, Elke Ydens, Magdalena Zimoń, Joy Irobi, Els De Vriendt, Vicky De Winter, Tinne Ooms, Vincent Timmerman, Ivailo Tournev, Albena Jordanov. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. American journal of human genetics. vol 92. issue 6. 2014-01-09. PMID:23664119. |
the most common form of spinal muscular atrophy (sma) is a recessive disorder caused by deleterious smn1 mutations in 5q13, whereas the genetic etiologies of non-5q sma are very heterogeneous and largely remain to be elucidated. |
2014-01-09 |
2023-08-12 |
drosophila_melanogaster |
| W David Arnold, Arthur H M Burghe. Spinal muscular atrophy: development and implementation of potential treatments. Annals of neurology. vol 74. issue 3. 2013-12-10. PMID:23939659. |
spinal muscular atrophy is caused by loss of the survival motor neuron 1 (smn1) gene and reduced levels of smn protein. |
2013-12-10 |
2023-08-12 |
mouse |