| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Minoru Satoh, Angela Ceribelli, Edward K L Cha. Common pathways of autoimmune inflammatory myopathies and genetic neuromuscular disorders. Clinical reviews in allergy & immunology. vol 42. issue 1. 2012-07-03. PMID:22083460. |
survival of motor neuron 1 (smn1) is well-known as a causative gene for spinal muscular atrophy (sma) and mutations of glycyl- and tyrosyl-trna synthetases are identified as a cause of distal sma and charcot-marie-tooth disease. |
2012-07-03 |
2023-08-12 |
Not clear |
| Bruno Maranda, Li Fan, Jean-François Soucy, Louise Simard, Grant A Mitchel. Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clinical biochemistry. vol 45. issue 1-2. 2012-06-28. PMID:22085534. |
spinal muscular atrophy: clinical validation of a single-tube multiplex real time pcr assay for determination of smn1 and smn2 copy numbers. |
2012-06-28 |
2023-08-12 |
Not clear |
| Manu Jokela, Bjarne Udd, Markku Päivärint. Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. Neuromuscular disorders : NMD. vol 22. issue 2. 2012-06-20. PMID:21862330. |
autosomal recessive proximal spinal muscular atrophy is caused by deletions in the survival of motor neuron (smn1) gene, while autoimmune myasthenia gravis is an acquired disorder. |
2012-06-20 |
2023-08-12 |
Not clear |
| M Marini, T H Sasongko, M S Watihayati, A B Atif, F Hayati, Z A M H Zabidi-Hussin, M Ravichandran, H Nishio, B A Zilfali. Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy. The Indian journal of medical research. vol 135. 2012-06-12. PMID:22382180. |
genetic diagnosis of spinal muscular atrophy (sma) is complicated by the presence of smn2 gene as majority of sma patients show absence or deletion of smn1 gene. |
2012-06-12 |
2023-08-12 |
Not clear |
| Eugenio Mercuri, Enrico Bertini, Susan T Iannaccon. Childhood spinal muscular atrophy: controversies and challenges. The Lancet. Neurology. vol 11. issue 5. 2012-06-06. PMID:22516079. |
spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene smn1. |
2012-06-06 |
2023-08-12 |
human |
| Indra Sari Kusuma Harahap, Toshio Saito, Lai Poh San, Naoko Sasaki, Gunadi, Dian Kesuma Pramudya Nurputra, Surini Yusoff, Tomoto Yamamoto, Satoru Morikawa, Noriyuki Nishimura, Myeong Jin Lee, Yasuhiro Takeshima, Masafumi Matsuo, Hisahide Nishi. Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines. Brain & development. vol 34. issue 3. 2012-06-04. PMID:21561730. |
spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, smn1. |
2012-06-04 |
2023-08-12 |
Not clear |
| Denise Locatelli, Paolo d'Errico, Silvia Capra, Adele Finardi, Francesca Colciaghi, Veronica Setola, Mineko Terao, Enrico Garattini, Giorgio Battagli. Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron. Journal of neurochemistry. vol 121. issue 3. 2012-05-24. PMID:22324632. |
the axonal survival of motor neuron (a-smn) protein is a truncated isoform of smn1, the spinal muscular atrophy (sma) disease gene. |
2012-05-24 |
2023-08-12 |
human |
| M J Fraidakis, S Drunat, T Maisonobe, B Gerard, P F Pradat, V Meininger, F Salacha. Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain. Neurology. vol 78. issue 8. 2012-04-23. PMID:22323744. |
we report the cases of 2 patients with late-onset spinal muscular atrophy (sma) type iii, who were hemizygous for smn1 deletion and carriers of novel smn1 intragenic missense mutations, and we investigate the genotype-phenotype relationship. |
2012-04-23 |
2023-08-12 |
Not clear |
| Natalia N Singh, Ravindra N Sing. Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. RNA biology. vol 8. issue 4. 2012-04-19. PMID:21654213. |
the inability of smn2 to compensate for the loss of smn1 results in spinal muscular atrophy (sma), the second most prevalent genetic cause of infant mortality. |
2012-04-19 |
2023-08-12 |
Not clear |
| 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 |