| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marco A Passini, Jie Bu, Amy M Richards, Cathrine Kinnecom, S Pablo Sardi, Lisa M Stanek, Yimin Hua, Frank Rigo, John Matson, Gene Hung, Edward M Kaye, Lamya S Shihabuddin, Adrian R Krainer, C Frank Bennett, Seng H Chen. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science translational medicine. vol 3. issue 72. 2011-06-13. PMID:21368223. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations in the smn1 gene that result in a deficiency of smn protein. |
2011-06-13 |
2023-08-12 |
mouse |
| Zhaiyi Zhang, Olga Kelemen, Maria A van Santen, Sharon M Yelton, Alison E Wendlandt, Vitaliy M Sviripa, Mathieu Bollen, Monique Beullens, Henning Urlaub, Reinhard Lührmann, David S Watt, Stefan Stam. Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA. The Journal of biological chemistry. vol 286. issue 12. 2011-06-09. PMID:21220421. |
spinal muscular atrophy is caused by the loss of the smn1 (survival of motoneuron 1) gene. |
2011-06-09 |
2023-08-12 |
Not clear |
| Yu-jin QU, Juan DU, Er-zhen LI, Yan-ling YANG, Li-ping ZOU, Jin-li BAI, Hong WANG, Yu-wei JIN, Fang SON. [Point mutation analysis of SMN1 gene 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 2. 2011-05-31. PMID:21462119. |
[point mutation analysis of smn1 gene in patients with spinal muscular atrophy]. |
2011-05-31 |
2023-08-12 |
Not clear |
| Yu-jin QU, Juan DU, Er-zhen LI, Yan-ling YANG, Li-ping ZOU, Jin-li BAI, Hong WANG, Yu-wei JIN, Fang SON. [Point mutation analysis of SMN1 gene 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 2. 2011-05-31. PMID:21462119. |
to identify the point mutations in survival motor neuron gene 1 smn1 gene and confirm the existence of compound heterozygous mutations in chinese patients with spinal muscular atrophy (sma). |
2011-05-31 |
2023-08-12 |
Not clear |
| Shay Ben-Shachar, Avi Orr-Urtreger, Eyal Bardugo, Ruth Shomrat, Yuval Yaro. Large-scale population screening for spinal muscular atrophy: clinical implications. Genetics in medicine : official journal of the American College of Medical Genetics. vol 13. issue 2. 2011-04-25. PMID:21233719. |
to determine the frequency of smn1 deletion carriers in the israeli population and to assess the feasibility of population screening for spinal muscular atrophy. |
2011-04-25 |
2023-08-12 |
Not clear |
| Hong Liu, Ariane Beauvais, Adam N Baker, Catherine Tsilfidis, Rashmi Kothar. Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy. Developmental neurobiology. vol 71. issue 2. 2011-04-18. PMID:20862739. |
we have used this model to study spinal muscular atrophy (sma), an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 gene (smn1). |
2011-04-18 |
2023-08-12 |
mouse |
| Xiao-Su Yang, Yi-Min Hu, Bo Xia. [Establishment of spinal muscular atrophy cell model by RNAi]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 33. issue 12. 2011-04-01. PMID:19141976. |
to establish spinal muscular atrophy (sma) cell model by blocking the expression of smn1 gene with shrna. |
2011-04-01 |
2023-08-12 |
Not clear |
| Thomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, Johan Palmfeldt, Henriette Skovgaard Andersen, Niels Gregersen, Brage Storstein Andrese. SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. Human mutation. vol 32. issue 2. 2011-03-24. PMID:21120954. |
spinal muscular atrophy is caused by homozygous loss of smn1 with phenotypic modulation by smn2. |
2011-03-24 |
2023-08-12 |
human |
| Thomas W Prio. Perspectives and diagnostic considerations in spinal muscular atrophy. Genetics in medicine : official journal of the American College of Medical Genetics. vol 12. issue 3. 2011-03-03. PMID:20057317. |
spinal muscular atrophy is caused by mutations in the telomeric copy of the survival motor neuron 1 (smn1) gene, but all patients retain a centromeric copy of the gene, smn2. |
2011-03-03 |
2023-08-12 |
Not clear |
| Nadia Passon, Giorgia Dubsky de Wittenau, Irena Jurman, Slobodanka Radovic, Elisa Bregant, Cristiano Molinis, Giuseppe Damante, Incoronata Renata Lonigr. Quick MLPA test for quantification of SMN1 and SMN2 copy numbers. Molecular and cellular probes. vol 24. issue 5. 2011-03-03. PMID:20659551. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused in about 95% of sma patients by homozygous deletion of the survival motor neuron 1 (smn1) gene or its conversion to the highly homologous smn2 gene. |
2011-03-03 |
2023-08-12 |
Not clear |
| Francesco Danilo Tiziano, Rosa Lomastro, Anna Maria Pinto, Sonia Messina, Adele D'Amico, Stefania Fiori, Carla Angelozzi, Marika Pane, Eugenio Mercuri, Enrico Bertini, Giovanni Neri, Christina Brah. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. Journal of medical genetics. vol 47. issue 12. 2011-03-02. PMID:20837492. |
spinal muscular atrophy (sma) is a neuromuscular disorder caused by mutations of the smn1 gene. |
2011-03-02 |
2023-08-12 |
Not clear |
| Tilman Voigt, Kathrin Meyer, Oliver Baum, Daniel Schümperl. Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscular disorders : NMD. vol 20. issue 11. 2011-01-21. PMID:20832308. |
in spinal muscular atrophy (sma), the smn1 gene is deleted or inactivated. |
2011-01-21 |
2023-08-12 |
mouse |
| Florence Petit, Jean-Marie Cuisset, Nathalie Rouaix-Emery, Claude Cancés, Bernard Sablonnière, Eric Bieth, Alexandre Moerman, Sylvie Sukno, Noah Hardy, Muriel Holder-Espinasse, Sylvie Manouvrier-Hanu, Louis Vallé. Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. Muscle & nerve. vol 43. issue 1. 2011-01-21. PMID:21171094. |
spinal muscular atrophy (sma) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene (smn1). |
2011-01-21 |
2023-08-12 |
Not clear |
| Shih-Hsien Hsu, Ming-Chi Lai, Tze-Kiong Er, San-Nan Yang, Chih-Hsing Hung, Hsin-Hung Tsai, Yu-Chieh Lin, Jan-Gowth Chang, Yi-Ching Lo, Yuh-Jyh Jon. Ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulates the level of SMN expression through ubiquitination in primary spinal muscular atrophy fibroblasts. Clinica chimica acta; international journal of clinical chemistry. vol 411. issue 23-24. 2011-01-19. PMID:20713032. |
spinal muscular atrophy (sma), a lethal hereditary disease caused by mutations of the survival of motor neuron 1 (smn1) gene, is the leading genetic cause of infant mortality. |
2011-01-19 |
2023-08-12 |
Not clear |
| S Bernal, L Alías, M J Barceló, E Also-Rallo, R Martínez-Hernández, J Gámez, E Guillén-Navarro, J Rosell, I Hernando, F J Rodríguez-Alvarez, S Borrego, J M Millán, C Hernández-Chico, M Baiget, P Fuentes-Prior, E F Tizzan. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. Journal of medical genetics. vol 47. issue 9. 2010-12-15. PMID:20577007. |
homozygous mutations of the telomeric smn1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (sma). |
2010-12-15 |
2023-08-12 |
Not clear |
| Chun-Chi Wang, Jan-Gowth Chang, Yen-Ling Chen, Yuh-Jyh Jong, Shou-Mei W. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. Electrophoresis. vol 31. issue 14. 2010-11-08. PMID:20564270. |
this method was used not only to quantify the copy numbers of highly homogenous telomeric smn (smn1)/centromeric smn genes in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular atrophy (sma). |
2010-11-08 |
2023-08-12 |
human |
| Chun-Chi Wang, Yuh-Jyh Jong, Jan-Gowth Chang, Yen-Ling Chen, Shou-Mei W. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Analytical and bioanalytical chemistry. vol 397. issue 6. 2010-10-08. PMID:20563565. |
universal fluorescent multiplex pcr and capillary electrophoresis for evaluation of gene conversion between smn1 and smn2 in spinal muscular atrophy. |
2010-10-08 |
2023-08-12 |
human |
| Chun-Chi Wang, Yuh-Jyh Jong, Jan-Gowth Chang, Yen-Ling Chen, Shou-Mei W. Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Analytical and bioanalytical chemistry. vol 397. issue 6. 2010-10-08. PMID:20563565. |
spinal muscular atrophy (sma) is a very frequent inherited disease caused by the absence of the smn1 gene in approximately 94% of patients. |
2010-10-08 |
2023-08-12 |
human |
| Wei-Liang Liu, Fang Li, Hong-Wei Ma, Hai-Yan L. [Study of SMN gene in Chinese children with spinal muscular atrophy]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. vol 12. issue 7. 2010-10-07. PMID:20637152. |
to study the incidence of homozygous absence of smn1 exons 7 and 8, smn gene conversion frequency and smn subtle mutations in children with spinal muscular atrophy (sma). |
2010-10-07 |
2023-08-12 |
Not clear |
| Thomas W Prior, Pamela J Snyder, Britton D Rink, Dennis K Pearl, Robert E Pyatt, David C Mihal, Todd Conlan, Betsy Schmalz, Laura Montgomery, Katie Ziegler, Carolee Noonan, Sayaka Hashimoto, Shannon Garne. Newborn and carrier screening for spinal muscular atrophy. American journal of medical genetics. Part A. vol 152A. issue 7. 2010-09-29. PMID:20578137. |
spinal muscular atrophy (sma) 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. |
2010-09-29 |
2023-08-12 |
Not clear |