| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Hidenobu Miyaso, Masayo Okumura, Shinichi Kondo, Satoshi Higashide, Hiroshi Miyajima, Kazunori Imaizum. An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. The Journal of biological chemistry. vol 278. issue 18. 2003-06-17. PMID:12604607. |
spinal muscular atrophy is caused by the homozygous loss of survival motor neuron 1 (smn1). |
2003-06-17 |
2023-08-12 |
Not clear |
| Shuji Ogino, Robert B Wilso. Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. The Journal of molecular diagnostics : JMD. vol 4. issue 4. 2003-04-25. PMID:12411585. |
approximately 94% of patients with spinal muscular atrophy lack both copies of smn1 exon 7, and most carriers have only one copy of smn1 exon 7. |
2003-04-25 |
2023-08-12 |
Not clear |
| Retno Sutomo, Tomoko Akutsu, Yasuhiro Takeshima, Hisahide Nishio, Ahmad Hamim Sadewa, Yosuke Harada, Masafumi Matsu. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. American journal of medical genetics. vol 113. issue 2. 2003-04-07. PMID:12407717. |
rapid smn1 deletion test using dhplc to screen patients with spinal muscular atrophy. |
2003-04-07 |
2023-08-12 |
Not clear |
| J M Wilmshurst, L Reynolds, R Van Toorn, F Leisegang, H E Henderso. Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. Clinical genetics. vol 62. issue 2. 2003-02-13. PMID:12220455. |
spinal muscular atrophy in black south africans: concordance with the universal smn1 genotype. |
2003-02-13 |
2023-08-12 |
human |
| Yvonne Hofmann, Brunhilde Wirt. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Human molecular genetics. vol 11. issue 17. 2003-02-03. PMID:12165565. |
proximal spinal muscular atrophy (sma) is a common motor neuron disease caused by homozygous loss of the survival motor neuron gene (smn1). |
2003-02-03 |
2023-08-12 |
Not clear |
| Sarah E Whitehead, Kevin W Jones, Xing Zhang, Xiaodong Cheng, Rebecca M Terns, Michael P Tern. Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. The Journal of biological chemistry. vol 277. issue 50. 2003-01-28. PMID:12244096. |
deletion or mutation of the smn1 (survival of motor neurons) gene causes the common, fatal neuromuscular disease spinal muscular atrophy. |
2003-01-28 |
2023-08-12 |
Not clear |
| I Cuscó, M J Barceló, C Soler, J Parra, M Baiget, E Tizzan. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG : an international journal of obstetrics and gynaecology. vol 109. issue 11. 2002-12-26. PMID:12452462. |
prenatal diagnosis of spinal muscular atrophy is usually performed in high risk couples by detection of a homozygous deletion in the survival motor neurone gene (smn1). |
2002-12-26 |
2023-08-12 |
Not clear |
| I Cuscó, M J Barceló, C Soler, J Parra, M Baiget, E Tizzan. Prenatal diagnosis for risk of spinal muscular atrophy. BJOG : an international journal of obstetrics and gynaecology. vol 109. issue 11. 2002-12-26. PMID:12452462. |
the aim of this study was to validate a smn1 gene quantitative test to help the couples formed by one spinal muscular atrophy carrier and a partner of the general population (1/200 potential risk) to achieve a less ambiguous risk result for the pregnancy. |
2002-12-26 |
2023-08-12 |
Not clear |
| P Corcia, J Khoris, P Couratier, V Mayeux-Portas, E Bieth, B De Toffol, A Autret, J P Müh, C Andres, W Cam. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427909. |
smn1 gene study in three families in which als and spinal muscular atrophy co-exist. |
2002-12-09 |
2023-08-12 |
Not clear |
| P Corcia, J Khoris, P Couratier, V Mayeux-Portas, E Bieth, B De Toffol, A Autret, J P Müh, C Andres, W Cam. SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology. vol 59. issue 9. 2002-12-09. PMID:12427909. |
spinal muscular atrophy (sma) is caused by smn1 gene deletions or mutations, and als is the most frequent motor neuron condition in adults. |
2002-12-09 |
2023-08-12 |
Not clear |
| Andoni Echaniz-Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant, André Reeber, Judith Melki, Jean-Marie Warte. Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. Journal of neurology. vol 249. issue 3. 2002-11-07. PMID:11993528. |
we searched for deletions of smn1 and smn2 in a group of 11 patients with sporadic adult-onset lower motor neuron disease (also referred to as "progressive muscular atrophy") and found an excess of patients carrying homozygous deletions of smn2 exon 7 (36% versus 5% in the normal population). |
2002-11-07 |
2023-08-12 |
Not clear |