| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Vivian Chan, Ben Yip, Irene Yam, Patrick Au, Che-Kit Lin, Virginia Wong, Tai-Kwong Cha. Carrier incidence for spinal muscular atrophy in southern Chinese. Journal of neurology. vol 251. issue 9. 2004-12-13. PMID:15372251. |
this allows the accurate determination of carriers for spinal muscular atrophy (sma), with one copy of smn1. |
2004-12-13 |
2023-08-12 |
Not clear |
| Ruliang Xu, Shuji Ogino, Va Lip, Hong Fang, Bai-Lin W. Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000803. |
pcr-based methods for the detection of homozygous deletion of exon 7 of the smn1 gene have been widely used in genetic testing for spinal muscular atrophy (sma). |
2004-10-21 |
2023-08-12 |
Not clear |
| Mehmet Simsek, Talal Al-Bulushi, Muralitharan Shanmugakonar, Hameeda S Al-Barwani, Riad Bayoum. Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy. Genetic testing. vol 7. issue 4. 2004-10-21. PMID:15000810. |
there are two highly homologous survival motor neuron (smn) genes in humans but molecular defects in the smn1 gene cause spinal muscular atrophy (sma). |
2004-10-21 |
2023-08-12 |
Not clear |
| Mira Malcov, Tamar Schwartz, Nava Mei-Raz, Dalit Ben Yosef, Ami Amit, Joseph B Lessing, Ruth Shomrat, Avi Orr-Urtreger, Yuval Yaro. Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. Fetal diagnosis and therapy. vol 19. issue 2. 2004-09-28. PMID:14764971. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused in most patients by homozygous deletion of the smn1 gene. |
2004-09-28 |
2023-08-12 |
Not clear |
| Natalia N Singh, Elliot J Androphy, Ravindra N Sing. In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (New York, N.Y.). vol 10. issue 8. 2004-08-27. PMID:15272122. |
in spinal muscular atrophy (sma), smn2 is not able to compensate for the loss of smn1 due to an inhibitory mutation at position 6 (c6u mutation in transcript) of exon 7. |
2004-08-27 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Spinal muscular atrophy: molecular genetics and diagnostics. Expert review of molecular diagnostics. vol 4. issue 1. 2004-08-13. PMID:14711346. |
spinal muscular atrophy is caused by a deficiency of the ubiquitous protein survival of motor neuron (smn), which is encoded by the smn genes, smn1 and smn2. |
2004-08-13 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Spinal muscular atrophy: molecular genetics and diagnostics. Expert review of molecular diagnostics. vol 4. issue 1. 2004-08-13. PMID:14711346. |
common pcr-restriction fragment length polymorphism assays can detect the homozygous absence of smn1 in approximately 94% of patients with clinically typical spinal muscular atrophy. |
2004-08-13 |
2023-08-12 |
Not clear |
| Bernard Echenne, François Rivier, Agathe Roubertie, Nancy L Carso. Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion. Journal of child neurology. vol 19. issue 3. 2004-08-03. PMID:15119481. |
a homozygous deletion of exons 7 and 8 of the survival of motor neuron 1, telomeric (smn1) gene was found, without neuronal apoptosis inhibitory protein (naip) gene deletion, leading to the diagnosis of spinal muscular atrophy. |
2004-08-03 |
2023-08-12 |
Not clear |
| 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. |
deletion of the smn1 and naip genes in vietnamese patients with spinal muscular atrophy. |
2004-06-29 |
2023-08-12 |
Not clear |
| 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 |