| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sheng-xi He, Xiu-shan Ge, Yu-jin Qu, Yu-wei Jin, Hong Wang, Jin-li Bai, Fang Son. [Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 28. issue 6. 2012-04-12. PMID:22161088. |
to investigate the type and frequency of gene conversion from smn1 to smn2 in chinese patients affected with spinal muscular atrophy (sma), and to explore the relationship between gene conversion and clinical phenotype. |
2012-04-12 |
2023-08-12 |
Not clear |
| Thomas W Bebee, Jordan T Gladman, Dawn S Chandle. Generation of a tamoxifen inducible SMN mouse for temporal SMN replacement. Genesis (New York, N.Y. : 2000). vol 49. issue 12. 2012-03-29. PMID:21538807. |
proximal spinal muscular atrophy (sma) is caused by low levels of the smn protein, encoded by the survival motor neuron genes (smn1 and smn2). |
2012-03-29 |
2023-08-12 |
mouse |
| Juan DU, Yu-jin Qu, Hui Xiong, Er-zhen Li, Yu-wei Jin, Jin-li Bai, Hong Wang, Fang Son. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 49. issue 6. 2012-03-29. PMID:21924051. |
[mutation analysis of smn1 gene in patients with spinal muscular atrophy]. |
2012-03-29 |
2023-08-12 |
Not clear |
| Juan DU, Yu-jin Qu, Hui Xiong, Er-zhen Li, Yu-wei Jin, Jin-li Bai, Hong Wang, Fang Son. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy]. Zhonghua er ke za zhi = Chinese journal of pediatrics. vol 49. issue 6. 2012-03-29. PMID:21924051. |
in the present study, we aimed to analyze survival motor neuron 1 (smn1) gene mutation in three patients with spinal muscular atrophy and their families to explore the effect of mutation on smn protein function and the relationship between mutation and clinical phenotype. |
2012-03-29 |
2023-08-12 |
Not clear |
| Mickey Buckingham, Ji-Long Li. U bodies respond to nutrient stress in Drosophila. Experimental cell research. vol 317. issue 20. 2012-03-07. PMID:21939654. |
the neurodegenerative disease spinal muscular atrophy (sma) is caused by mutation of the survival motor neuron 1 (smn1) gene. |
2012-03-07 |
2023-08-12 |
drosophila_melanogaster |
| K C Bueno, S P Gouvea, A B Genari, C A Funayama, D L Zanette, W A Silva, A B Oliveira, R H Scola, L C Werneck, W Marque. Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. Neuroepidemiology. vol 36. issue 2. 2012-03-06. PMID:21335981. |
spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the smn1 gene. |
2012-03-06 |
2023-08-12 |
Not clear |
| Tristan H Coady, Christian L Lorso. SMN in spinal muscular atrophy and snRNP biogenesis. Wiley interdisciplinary reviews. RNA. vol 2. issue 4. 2012-03-05. PMID:21957043. |
survival motor neuron (smn) performs an essential role in the maturation of snrnps, while the homozygous loss of smn1 results in the development of spinal muscular atrophy (sma), a devastating neurodegenerative disease. |
2012-03-05 |
2023-08-12 |
Not clear |
| Monique A Lorson, Lee D Spate, Melissa S Samuel, Clifton N Murphy, Christian L Lorson, Randall S Prather, Kevin D Well. Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. Transgenic research. vol 20. issue 6. 2012-02-27. PMID:21350916. |
spinal muscular atrophy (sma) is an autosomal recessive neurodegenerative disease that is a result of a deletion or mutation of the smn1 (survival motor neuron) gene. |
2012-02-27 |
2023-08-12 |
human |
| Matteo Ruggiu, Vicki L McGovern, Francesco Lotti, Luciano Saieva, Darrick K Li, Shingo Kariya, Umrao R Monani, Arthur H M Burghes, Livio Pellizzon. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Molecular and cellular biology. vol 32. issue 1. 2012-02-13. PMID:22037760. |
spinal muscular atrophy (sma) is an inherited motor neuron disease caused by homozygous loss of the survival motor neuron 1 (smn1) gene. |
2012-02-13 |
2023-08-12 |
mouse |
| Satoru Morikawa, Indra Sari Kusuma Harahap, Richard Hideki Kaszynski, Tomoto Yamamoto, Dian Kesuma Pramudya, Huyen Thi Van Pham, Tri Budi Hartomo, Myeong Jin Lee, Ichiro Morioka, Noriyuki Nishimura, Naoki Yokoyama, Yasuhiro Ueno, Masafumi Matsuo, Hisahide Nishi. Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations. Genetic testing and molecular biomarkers. vol 15. issue 10. 2012-02-03. PMID:21631299. |
diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for smn1 deletions and intragenic mutations. |
2012-02-03 |
2023-08-12 |
Not clear |
| Satoru Morikawa, Indra Sari Kusuma Harahap, Richard Hideki Kaszynski, Tomoto Yamamoto, Dian Kesuma Pramudya, Huyen Thi Van Pham, Tri Budi Hartomo, Myeong Jin Lee, Ichiro Morioka, Noriyuki Nishimura, Naoki Yokoyama, Yasuhiro Ueno, Masafumi Matsuo, Hisahide Nishi. Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations. Genetic testing and molecular biomarkers. vol 15. issue 10. 2012-02-03. PMID:21631299. |
spinal muscular atrophy (sma) is a well-defined autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (smn1) gene. |
2012-02-03 |
2023-08-12 |
Not clear |
| Yimin Hua, Kentaro Sahashi, Frank Rigo, Gene Hung, Guy Horev, C Frank Bennett, Adrian R Kraine. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. vol 478. issue 7367. 2012-01-25. PMID:21979052. |
spinal muscular atrophy (sma) is a motor neuron disease and the leading genetic cause of infant mortality; it results from loss-of-function mutations in the survival motor neuron 1 (smn1) gene. |
2012-01-25 |
2023-08-12 |
mouse |
| Claudia Castiglioni, Jorge Levicán, Eliana Rodillo, María Angélica Garmendia, Alejandra Díaz, Lorena Pizarro, Luis Contrera. [Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy]. Revista medica de Chile. vol 139. issue 2. 2012-01-20. PMID:21773657. |
spinal muscular atrophy (sma) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (smn1) gene. |
2012-01-20 |
2023-08-12 |
Not clear |
| Pablo Mier, Antonio J Pérez-Pulid. Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy. Gene. vol 491. issue 2. 2012-01-18. PMID:22020225. |
spinal muscular atrophy is an important rare genetic disease characterized by the loss of motor neurons, where the main gene responsible is smn1. |
2012-01-18 |
2023-08-12 |
Not clear |
| Thanh T Le, Vicki L McGovern, Isaac E Alwine, Xueyong Wang, Aurelie Massoni-Laporte, Mark M Rich, Arthur H M Burghe. Temporal requirement for high SMN expression in SMA mice. Human molecular genetics. vol 20. issue 18. 2012-01-17. PMID:21672919. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron 1 gene (smn1) and retention of the smn2 gene, resulting in reduced smn. |
2012-01-17 |
2023-08-12 |
mouse |
| Eva Also-Rallo, Laura Alías, Rebeca Martínez-Hernández, Lidia Caselles, María J Barceló, Montserrat Baiget, Sara Bernal, Eduardo F Tizzan. Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. European journal of human genetics : EJHG. vol 19. issue 10. 2012-01-11. PMID:21610752. |
spinal muscular atrophy (sma) is a genetic neuromuscular disorder caused by mutations in the smn1 gene. |
2012-01-11 |
2023-08-12 |
Not clear |
| Jeffrey M Dale, Hailian Shen, Devin M Barry, Virginia B Garcia, Ferrill F Rose, Christian L Lorson, Michael L Garci. The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations. Acta neuropathologica. vol 122. issue 3. 2012-01-10. PMID:21681521. |
spinal muscular atrophy (sma) is a neurodegenerative disease resulting from decreased levels of survival motor neuron 1 (smn1) protein. |
2012-01-10 |
2023-08-12 |
mouse |
| Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish, Corey Braasta. Technical standards and guidelines for spinal muscular atrophy testing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 7. 2011-12-13. PMID:21673580. |
spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2011-12-13 |
2023-08-12 |
Not clear |
| Thomas W Prior, Narasimhan Nagan, Elaine A Sugarman, Sat Dev Batish, Corey Braasta. Technical standards and guidelines for spinal muscular atrophy testing. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 7. 2011-12-13. PMID:21673580. |
the homozygous absence of the smn1 exon 7 has been observed in the majority of patients and is being used as a reliable and sensitive spinal muscular atrophy diagnostic test. |
2011-12-13 |
2023-08-12 |
Not clear |
| Thomas W Prio. Spinal muscular atrophy: a time for screening. Current opinion in pediatrics. vol 22. issue 6. 2011-11-09. PMID:20829691. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (smn1) gene, affecting approximately 1 in 10,000 live births. |
2011-11-09 |
2023-08-12 |
Not clear |