| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Duc Bach Nguyen, Ahmad Hamin Sadewa, Yasuhiro Takeshima, Retno Sutomo, Van Khanh Tran, Thi Ngoc Dao Nguyen, Thi Hoan Nguyen, Chi Dung Vu, Diem Hong Dang, Yosuke Harada, Hisahide Nishio, Masafumi Matsu. Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy. The Kobe journal of medical sciences. vol 49. issue 3-4. 2004-06-29. PMID:14676483. |
the smn1 and naip genes are related to the development of spinal muscular atrophy (sma), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. |
2004-06-29 |
2023-08-12 |
Not clear |
| Bernard Khoo, Scott A Akker, Shern L Che. Putting some spine into alternative splicing. Trends in biotechnology. vol 21. issue 8. 2004-04-20. PMID:12902166. |
spinal muscular atrophy is a neurodegenerative disease caused by mutations of the smn1 gene. |
2004-04-20 |
2023-08-12 |
Not clear |
| Natalia N Singh, Elliot J Androphy, Ravindra N Sing. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochemical and biophysical research communications. vol 315. issue 2. 2004-04-20. PMID:14766219. |
the most frequent cause of spinal muscular atrophy (sma) is loss of smn1 accompanied by the inability of smn2 to compensate due to an inhibitory mutation at position 6 in exon 7 (c6u) that causes exon 7 exclusion. |
2004-04-20 |
2023-08-12 |
Not clear |
| Yimin Hua, Jianhua Zho. Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. Biochemical and biophysical research communications. vol 314. issue 1. 2004-04-19. PMID:14715275. |
spinal muscular atrophy (sma) is a neurodegenerative disorder resulting from homozygous loss of the smn1 gene. |
2004-04-19 |
2023-08-12 |
human |
| Claudia Helmken, Yvonne Hofmann, Frank Schoenen, Gabriela Oprea, Heidrun Raschke, Sabine Rudnik-Schöneborn, Klaus Zerres, Brunhilde Wirt. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Human genetics. vol 114. issue 1. 2004-03-23. PMID:14520560. |
proximal spinal muscular atrophy (sma) is a neuromuscular disorder caused by homozygous mutations of the smn1 gene. |
2004-03-23 |
2023-08-12 |
human |
| Jonathan W Francis, Dayse Figueiredo, Johanna C vanderSpek, Laura M Ayala, Young Seon Kim, Mary P Remington, Philip J Young, Christian L Lorson, Shinichiro Ikebe, Paul S Fishman, Robert H Brow. A survival motor neuron:tetanus toxin fragment C fusion protein for the targeted delivery of SMN protein to neurons. Brain research. vol 995. issue 1. 2004-03-11. PMID:14644474. |
spinal muscular atrophy (sma) is a degenerative disorder of spinal motor neurons caused by homozygous mutations in the survival motor neuron (smn1) gene. |
2004-03-11 |
2023-08-12 |
mouse |
| Ivon Cuscó, Eva López, Carolina Soler-Botija, María Jesús Barceló, Montserrat Baiget, Eduardo F Tizzan. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Human mutation. vol 22. issue 2. 2004-02-20. PMID:12872254. |
a genetic and phenotypic analysis in spanish spinal muscular atrophy patients with c.399_402del agag, the most frequently found subtle mutation in the smn1 gene. |
2004-02-20 |
2023-08-12 |
Not clear |
| Ivon Cuscó, Eva López, Carolina Soler-Botija, María Jesús Barceló, Montserrat Baiget, Eduardo F Tizzan. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Human mutation. vol 22. issue 2. 2004-02-20. PMID:12872254. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the smn1 (survival motor neuron) gene. |
2004-02-20 |
2023-08-12 |
Not clear |
| Jeanne-Claire Lesbordes, Carmen Cifuentes-Diaz, Audrey Miroglio, Vandana Joshi, Thierry Bordet, Axel Kahn, Judith Melk. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Human molecular genetics. vol 12. issue 11. 2004-01-30. PMID:12761038. |
spinal muscular atrophy (sma) is a recessive autosomal disorder characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron gene (smn1). |
2004-01-30 |
2023-08-12 |
mouse |
| Wilfried Rossoll, Sibylle Jablonka, Catia Andreassi, Ann-Kathrin Kröning, Kathrin Karle, Umrao R Monani, Michael Sendtne. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. The Journal of cell biology. vol 163. issue 4. 2004-01-13. PMID:14623865. |
spinal muscular atrophy (sma), a common autosomal recessive form of motoneuron disease in infants and young adults, is caused by mutations in the survival motoneuron 1 (smn1) gene. |
2004-01-13 |
2023-08-12 |
mouse |
| A Bouhouche, A Benomar, N Birouk, N Bouslam, R Ouazzani, M Yahyaoui, T Chkil. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients. Journal of neurology. vol 250. issue 10. 2003-12-12. PMID:14586604. |
high incidence of smn1 gene deletion in moroccan adult-onset spinal muscular atrophy patients. |
2003-12-12 |
2023-08-12 |
Not clear |
| Charlotte J Sumner, Thanh N Huynh, Jennifer A Markowitz, J Stephen Perhac, Brenna Hill, Daniel D Coovert, Kristie Schussler, Xiaocun Chen, Jill Jarecki, Arthur H M Burghes, J Paul Taylor, Kenneth H Fischbec. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Annals of neurology. vol 54. issue 5. 2003-12-10. PMID:14595654. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by mutation of the telomeric copy of the survival motor neuron gene (smn1). |
2003-12-10 |
2023-08-12 |
Not clear |
| Raju Ilangovan, William L Marshall, Yimin Hua, Jianhua Zho. Inhibition of apoptosis by Z-VAD-fmk in SMN-depleted S2 cells. The Journal of biological chemistry. vol 278. issue 33. 2003-11-10. PMID:12783893. |
spinal muscular atrophy is an autosomal recessive motor neuron degenerative disorder, caused by the loss of telomeric copy of the survival motor neuron gene (smn1). |
2003-11-10 |
2023-08-12 |
drosophila_melanogaster |
| Shuji Ogino, Sizhen Gao, Debra G B Leonard, Michele Paessler, Robert B Wilso. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. European journal of human genetics : EJHG. vol 11. issue 3. 2003-11-04. PMID:12673282. |
most carriers of autosomal recessive spinal muscular atrophy (sma) have only one copy of smn1 because of smn1 gene deletions or gene conversions from smn1 to smn2, which has only one base difference in coding sequence from smn1. |
2003-11-04 |
2023-08-12 |
Not clear |
| Hafedh Haddad, Carmen Cifuentes-Diaz, Audrey Miroglio, Natacha Roblot, Vandana Joshi, Judith Melk. Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. Muscle & nerve. vol 28. issue 4. 2003-10-29. PMID:14506714. |
spinal muscular atrophy (sma) is a motor neuron disease caused by mutations of the survival motor neuron 1 gene (smn1). |
2003-10-29 |
2023-08-12 |
mouse |
| Tsuyoshi Kashima, James L Manle. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nature genetics. vol 34. issue 4. 2003-09-22. PMID:12833158. |
spinal muscular atrophy (sma) is a relatively common neurodegenerative disease caused by homozygous loss of the survival motor neuron 1 (smn1) gene. |
2003-09-22 |
2023-08-12 |
Not clear |
| Honglai L Zhang, Feng Pan, Daewha Hong, Shailesh M Shenoy, Robert H Singer, Gary J Bassel. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 23. issue 16. 2003-09-03. PMID:12878704. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein gene (smn1) that results in the expression of a truncated protein lacking the c terminal exon-7. |
2003-09-03 |
2023-08-12 |
Not clear |
| Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, Klaus Zerre. Determination of SMN1 and SMN2 copy number using TaqMan technology. Human mutation. vol 22. issue 1. 2003-08-11. PMID:12815596. |
infantile spinal muscular atrophy (sma) is a neuromuscular disease caused by homozygous deletion of the smn1 gene in more than 90% of patients. |
2003-08-11 |
2023-08-12 |
Not clear |
| Maria Jedrzejowska, Wojciech Wiszniewski, Barbara Ryniewicz, Irena Hausmanowa-Petrusewic. [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]. Medycyna wieku rozwojowego. vol 6. issue 4. 2003-08-01. PMID:12810984. |
[identification of t274i mutation in the smn1 gene in a patient with spinal muscular atrophy]. |
2003-08-01 |
2023-08-12 |
Not clear |
| Tran Van Khanh, Yasuhiro Takeshima, Yosuke Harada, Hisahide Nishio, Nguyen Thi Ngoc Dao, Nguyen Thi Hoan, Bui Phuong Thao, Masafumi Matsu. Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy. The Kobe journal of medical sciences. vol 48. issue 5-6. 2003-06-26. PMID:12657835. |
most patients with spinal muscular atrophy (sma) have been reported to show homozygous deletion of the gene responsible for sma, smn1. |
2003-06-26 |
2023-08-12 |
Not clear |