| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Francesco Roselli, Pico Caron. A circuit mechanism for neurodegeneration. Cell. vol 151. issue 2. 2012-12-28. PMID:23063119. |
how deficiency in smn1 selectively affects motoneurons in spinal muscular atrophy is poorly understood. |
2012-12-28 |
2023-08-12 |
Not clear |
| Maamouri-Hicheri Wieme, Hammer Monia Ben, Bouhlal Yosr, Souilem Sihem, Toumi Nawel, Manai-Azizi Ines, Bennour Wajdi, Khmiri Najla, Nahdi Houda, Hentati Faycal, Amouri Ri. Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 3. 2012-11-30. PMID:22847162. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (smn1). |
2012-11-30 |
2023-08-12 |
Not clear |
| Virginia B Mattis, Cheng-Wei Tom Chang, Christian L Lorso. Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy. Neuroscience letters. vol 525. issue 1. 2012-11-27. PMID:22819971. |
spinal muscular atrophy (sma) is the leading genetic cause of infantile death and caused by the loss of functional survival motor neuron 1 (smn1). |
2012-11-27 |
2023-08-12 |
mouse |
| C Thauvin-Robinet, S Drunat, P Saugier Veber, D Chantereau, M Cossée, C Cassini, P Soichot, A Masurel-Paulet, J V De Monléon, P Sagot, F Huet, M Antin, N Calmels, L Faivre, B Gérar. Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. American journal of medical genetics. Part A. vol 158A. issue 7. 2012-11-13. PMID:22678974. |
homozygous smn1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. |
2012-11-13 |
2023-08-12 |
human |
| C Thauvin-Robinet, S Drunat, P Saugier Veber, D Chantereau, M Cossée, C Cassini, P Soichot, A Masurel-Paulet, J V De Monléon, P Sagot, F Huet, M Antin, N Calmels, L Faivre, B Gérar. Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. American journal of medical genetics. Part A. vol 158A. issue 7. 2012-11-13. PMID:22678974. |
we report on a rare homozygous intragenic deletion encompassing exons 1-6 of the smn1 gene in a patient with spinal muscular atrophy (sma) born into a consanguineous family. |
2012-11-13 |
2023-08-12 |
human |
| Kentaro Sahashi, Yimin Hua, Karen K Y Ling, Gene Hung, Frank Rigo, Guy Horev, Masahisa Katsuno, Gen Sobue, Chien-Ping Ko, C Frank Bennett, Adrian R Kraine. TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes & development. vol 26. issue 16. 2012-10-29. PMID:22895255. |
spinal muscular atrophy (sma) is a motor neuron disease caused by loss-of-function mutations in the smn1 gene. |
2012-10-29 |
2023-08-12 |
mouse |
| Claudia Fallini, Gary J Bassell, Wilfried Rossol. Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. Brain research. vol 1462. 2012-10-12. PMID:22330725. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of motor neuron (smn1) gene, encoding the ubiquitously expressed smn protein. |
2012-10-12 |
2023-08-12 |
Not clear |
| Eileen Workman, Stephen J Kolb, Daniel J Battl. Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Brain research. vol 1462. 2012-10-12. PMID:22424789. |
mutations in the smn1 gene result in the motor neuron disease, spinal muscular atrophy (sma). |
2012-10-12 |
2023-08-12 |
Not clear |
| Denise Locatelli, Mineko Terao, Maddalena Fratelli, Adriana Zanetti, Mami Kurosaki, Monica Lupi, Maria Monica Barzago, Andrea Uggetti, Silvia Capra, Paolo D'Errico, Giorgio S Battaglia, Enrico Garattin. Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C-C motif ligand 2 (CCL2), and insulin-like growth factor-1 (IGF1) production. The Journal of biological chemistry. vol 287. issue 31. 2012-10-11. PMID:22669976. |
spinal muscular atrophy is a fatal genetic disease of motoneurons due to loss of full-length survival of motor neuron protein, the main product of the disease gene smn1. |
2012-10-11 |
2023-08-12 |
mouse |