| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Justin G Boyer, Lyndsay M Murray, Kyle Scott, Yves De Repentigny, Jean-Marc Renaud, Rashmi Kothar. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skeletal muscle. vol 3. issue 1. 2013-11-15. PMID:24119341. |
the childhood neuromuscular disease spinal muscular atrophy (sma) is caused by mutations or deletions of the survival motor neuron (smn1) gene. |
2013-11-15 |
2023-08-12 |
mouse |
| Melissa S Cobb, Ferril F Rose, Hansjörg Rindt, Jacqueline J Glascock, Monir Shababi, Madeline R Miller, Erkan Y Osman, Pei-Fen Yen, Michael L Garcia, Brittanie R Martin, Mary J Wetz, Chiara Mazzasette, Zhihua Feng, Chien-Ping Ko, Christian L Lorso. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Human molecular genetics. vol 22. issue 9. 2013-11-14. PMID:23390132. |
spinal muscular atrophy (sma) is due to the loss of the survival motor neuron gene 1 (smn1), resulting in motor neuron (mn) degeneration, muscle atrophy and loss of motor function. |
2013-11-14 |
2023-08-12 |
mouse |
| Chalermchai Mitrpant, Paul Porensky, Haiyan Zhou, Loren Price, Francesco Muntoni, Sue Fletcher, Steve D Wilton, Arthur H M Burghe. Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. PloS one. vol 8. issue 4. 2013-11-12. PMID:23630626. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron 1 (smn1) gene, resulting in reduced smn protein. |
2013-11-12 |
2023-08-12 |
mouse |
| Francesco D Tiziano, Rosa Lomastro, Lorena Di Pietro, Maria Barbara Pasanisi, Stefania Fiori, Carla Angelozzi, Emanuela Abiusi, Corrado Angelini, Gianni Sorarù, Alessandra Gaiani, Tiziana Mongini, Liliana Vercelli, Gessica Vasco, Giuseppe Vita, Gian Luca Vita, Sonia Messina, Luisa Politano, Luigia Passamano, Grazia Di Gregorio, Cristina Montomoli, Chiara Orsi, Angela Campanella, Renato Mantegazza, Lucia Morand. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. European journal of human genetics : EJHG. vol 21. issue 6. 2013-10-21. PMID:23073312. |
proximal spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations of the smn1 gene. |
2013-10-21 |
2023-08-12 |
Not clear |
| Magdalena Kuźma-Kozakiewicz, Maria Jędrzejowska, Beata Kaźmiercza. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 5-6. 2013-10-17. PMID:23477310. |
smn1 gene duplications are more frequent in patients with progressive muscular atrophy. |
2013-10-17 |
2023-08-12 |
Not clear |
| Magdalena Kuźma-Kozakiewicz, Maria Jędrzejowska, Beata Kaźmiercza. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 5-6. 2013-10-17. PMID:23477310. |
survival motor neuron 1 (smn1) is a causative gene for autosomal recessive infantile and juvenile proximal spinal muscular atrophy. |
2013-10-17 |
2023-08-12 |
Not clear |
| Hsin-Lan Wen, Chen-Hung Ting, Huei-Chun Liu, Hung Li, Sue Lin-Cha. Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a mouse model of spinal muscular atrophy. Neurobiology of disease. vol 52. 2013-08-05. PMID:23268200. |
spinal muscular atrophy (sma), a genetic neurodegenerative disorder, is caused by mutations or deletions in the survival of motor neuron 1 (smn1) gene that result in smn deficiency. |
2013-08-05 |
2023-08-12 |
mouse |
| b' Gabriel Sanchez, Alain Y Dury, Lyndsay M Murray, Olivier Biondi, Helina Tadesse, Rachid El Fatimy, Rashmi Kothary, Fr\\xc3\\xa9d\\xc3\\xa9ric Charbonnier, Edouard W Khandjian, Jocelyn C\\xc3\\xb4t\\xc3\\xa. A novel function for the survival motoneuron protein as a translational regulator. Human molecular genetics. vol 22. issue 4. 2013-07-05. PMID:23136128.' |
smn1, the causative gene for spinal muscular atrophy (sma), plays a housekeeping role in the biogenesis of small nuclear rna ribonucleoproteins. |
2013-07-05 |
2023-08-12 |
mouse |
| Katherine V Bricceno, Paul J Sampognaro, James P Van Meerbeke, Charlotte J Sumner, Kenneth H Fischbeck, Barrington G Burnet. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human molecular genetics. vol 21. issue 20. 2013-06-21. PMID:22798624. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (smn1) gene and deficient expression of the ubiquitously expressed smn protein. |
2013-06-21 |
2023-08-12 |
mouse |
| Melissa Osborne, Daniel Gomez, Zhihua Feng, Corissa McEwen, Jose Beltran, Kim Cirillo, Bassem El-Khodor, Ming-Yi Lin, Yun Li, Wendy M Knowlton, David D McKemy, Laurent Bogdanik, Katherine Butts-Dehm, Kimberly Martens, Crystal Davis, Rosalinda Doty, Keegan Wardwell, Afshin Ghavami, Dione Kobayashi, Chien-Ping Ko, Sylvie Ramboz, Cathleen Lut. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Human molecular genetics. vol 21. issue 20. 2013-06-21. PMID:22802075. |
a number of mouse models for spinal muscular atrophy (sma) have been genetically engineered to recapitulate the severity of human sma by using a targeted null mutation at the mouse smn1 locus coupled with the transgenic addition of varying copy numbers of human smn2 genes. |
2013-06-21 |
2023-08-12 |
mouse |
| Lutz Garbes, Ludwig Heesen, Irmgard Hölker, Tim Bauer, Julia Schreml, Katharina Zimmermann, Michaela Thoenes, Michael Walter, John Dimos, Michael Peitz, Oliver Brüstle, Raoul Heller, Brunhilde Wirt. VPA response in SMA is suppressed by the fatty acid translocase CD36. Human molecular genetics. vol 22. issue 2. 2013-06-17. PMID:23077215. |
functional loss of smn1 causes proximal spinal muscular atrophy (sma), the most common genetic condition accounting for infant lethality. |
2013-06-17 |
2023-08-12 |
Not clear |
| Natalia N Singh, Joonbae Seo, Sarah J Rahn, Ravindra N Sing. A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PloS one. vol 7. issue 11. 2013-05-22. PMID:23185376. |
loss of smn1 coupled with the predominant skipping of smn2 exon 7 causes spinal muscular atrophy (sma), a neurodegenerative disease. |
2013-05-22 |
2023-08-12 |
Not clear |
| J-M Cuisset, B Estourne. Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. Revue neurologique. vol 168. issue 12. 2013-05-21. PMID:23107878. |
typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to smn1 gene defects. |
2013-05-21 |
2023-08-12 |
Not clear |
| Christina Timmerman, Subhabrata Sanya. Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain research. vol 1489. 2013-05-01. PMID:23103409. |
severe reduction in survival motor neuron 1 (smn1) protein in humans causes spinal muscular atrophy (sma), a debilitating childhood disease that leads to progressive impairment of the neuro-muscular system. |
2013-05-01 |
2023-08-12 |
mouse |
| Jin He, Qi-Jie Zhang, Qi-Fang Lin, Ya-Fang Chen, Xiao-Zhen Lin, Min-Ting Lin, Shen-Xing Murong, Ning Wang, Wan-Jin Che. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy. Gene. vol 518. issue 2. 2013-04-30. PMID:23352792. |
molecular analysis of smn1, smn2, naip, gtf2h2, and h4f5 genes in 157 chinese patients with spinal muscular atrophy. |
2013-04-30 |
2023-08-12 |
Not clear |
| Jin He, Qi-Jie Zhang, Qi-Fang Lin, Ya-Fang Chen, Xiao-Zhen Lin, Min-Ting Lin, Shen-Xing Murong, Ning Wang, Wan-Jin Che. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy. Gene. vol 518. issue 2. 2013-04-30. PMID:23352792. |
spinal muscular atrophy (sma) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (smn1) gene. |
2013-04-30 |
2023-08-12 |
Not clear |
| Laura Alías, Sara Bernal, Maria J Barceló, Eva Also-Rallo, Rebeca Martínez-Hernández, Francisco J Rodríguez-Alvarez, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. Genetic testing and molecular biomarkers. vol 15. issue 9. 2013-03-14. PMID:21548796. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by absence of or mutations in the survival motor neuron1 gene (smn1). |
2013-03-14 |
2023-08-12 |
Not clear |
| Monir Shababi, Christian L Lorso. Optimization of SMN trans-splicing through the analysis of SMN introns. Journal of molecular neuroscience : MN. vol 46. issue 3. 2013-02-25. PMID:21826391. |
spinal muscular atrophy (sma), a neurodegenerative disease, is the leading genetic cause of infantile death and is caused by the loss of survival motor neuron 1 (smn1). |
2013-02-25 |
2023-08-12 |
mouse |
| Fernanda Marques de Souza Godinho, Hugo Bock, Tailise Conte Gheno, Maria Luiza Saraiva-Pereir. Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(®) real-time PCR. Genetics and molecular biology. vol 35. issue 4 (suppl). 2013-02-18. PMID:23412967. |
spinal muscular atrophy (sma) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron i (smn1) gene. |
2013-02-18 |
2023-08-12 |
Not clear |
| Wan-Jin Chen, Jin He, Qi-Jie Zhang, Qi-Fang Lin, Ya-Fang Chen, Xiao-Zhen Lin, Min-Ting Lin, Shen-Xing Murong, Ning Wan. Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations. Clinica chimica acta; international journal of clinical chemistry. vol 413. issue 23-24. 2013-02-01. PMID:22884440. |
as a lethal autosomal recessive hereditary disorder, childhood spinal muscular atrophy (sma) is caused by mutations of the survival motor neuron 1 (smn1) gene. |
2013-02-01 |
2023-08-12 |
Not clear |