| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Bassem F El-Khodor, Nicole Edgar, Angela Chen, Margaret L Winberg, Cynthia Joyce, Daniela Brunner, Mayte Suárez-Fariñas, Melvyn P Heye. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Experimental neurology. vol 212. issue 1. 2008-07-17. PMID:18455159. |
spinal muscular atrophy (sma) is characterized by selective loss of alpha-motor neurons and is caused by homozygous loss or mutation in the survival motor neuron (smn1) gene. |
2008-07-17 |
2023-08-12 |
mouse |
| Wen-Chen Liang, Chung-Yee Yuo, Jan-Gowth Chang, Yi-Ching Chen, Yung-Fu Chang, Hui-Yi Wang, Yun-Huei Ju, Shyh-Shin Chiou, Yuh-Jyh Jon. The effect of hydroxyurea in spinal muscular atrophy cells and patients. Journal of the neurological sciences. vol 268. issue 1-2. 2008-07-02. PMID:18166199. |
spinal muscular atrophy (sma) is a degenerative motor neuron disease caused by homozygous mutations of the survival motor neuron 1 (smn1) gene. |
2008-07-02 |
2023-08-12 |
Not clear |
| Thomas Eggermann, Katja Eggermann, Miriam Elbracht, Klaus Zerres, Sabine Rudnik-Schönebor. A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. Neuromuscular disorders : NMD. vol 18. issue 2. 2008-06-09. PMID:18155522. |
in most patients with infantile spinal muscular atrophy (sma) both exons 7 and 8 of the smn1 gene are deleted, but the deletion may also be restricted to exon 7. |
2008-06-09 |
2023-08-12 |
Not clear |
| Graham C Parker, Xingli Li, Roumen A Anguelov, Gabor Toth, Adam Cristescu, Gyula Acsad. Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. Neurotoxicity research. vol 13. issue 1. 2008-06-09. PMID:18367439. |
progressive spinal muscular atrophy (sma), the most prevalent hereditary lower motor neuron disease, is caused by mutations in the telomeric copy of the survival of motor neuron (smn1) gene. |
2008-06-09 |
2023-08-12 |
Not clear |
| Gabriela E Oprea, Sandra Kröber, Michelle L McWhorter, Wilfried Rossoll, Stefan Müller, Michael Krawczak, Gary J Bassell, Christine E Beattie, Brunhilde Wirt. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (New York, N.Y.). vol 320. issue 5875. 2008-05-07. PMID:18440926. |
homozygous deletion of the survival motor neuron 1 gene (smn1) causes spinal muscular atrophy (sma), the most frequent genetic cause of early childhood lethality. |
2008-05-07 |
2023-08-12 |
mouse |
| John Thurmond, Matthew E R Butchbach, Marty Palomo, Brian Pease, Munagala Rao, Louis Bedell, Monica Keyvan, Grace Pai, Rama Mishra, Magnus Haraldsson, Thorkell Andresson, Gisli Bragason, Margret Thosteinsdottir, Jon Mar Bjornsson, Daniel D Coovert, Arthur H M Burghes, Mark E Gurney, Jasbir Sing. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. Journal of medicinal chemistry. vol 51. issue 3. 2008-05-05. PMID:18205293. |
proximal spinal muscular atrophy (sma) is an autosomal recessive disorder characterized by death of motor neurons in the spinal cord that is caused by deletion and/or mutation of the survival motor neuron gene ( smn1). |
2008-05-05 |
2023-08-12 |
mouse |
| Mary S Sakla, Christian L Lorso. Induction of full-length survival motor neuron by polyphenol botanical compounds. Human genetics. vol 122. issue 6. 2008-04-30. PMID:17962980. |
the loss of survival motor neuron-1 (smn1) is responsible for the development of the neurodegenerative disorder spinal muscular atrophy (sma). |
2008-04-30 |
2023-08-12 |
Not clear |
| Pupak Derakhshandeh-Peykar, Mohsen Esmaili, Zahra Ousati-Ashtiani, Manijeh Rahmani, Farbod Babrzadeh, Shahla Farshidi, Elham Attaran, Mohammad Mehdi Sajedifar, Dariush Daneshvar Farhu. Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy. Annals of the Academy of Medicine, Singapore. vol 36. issue 11. 2008-04-29. PMID:18071605. |
molecular analysis of the smn1 and naip genes in iranian patients with spinal muscular atrophy. |
2008-04-29 |
2023-08-12 |
Not clear |
| Lars Brichta, Lutz Garbes, Maria Jedrzejowska, Sushma-Nagaraja Grellscheid, Irmgard Holker, Katharina Zimmermann, Brunhilde Wirt. Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Human genetics. vol 123. issue 2. 2008-04-22. PMID:18172693. |
autosomal recessive proximal spinal muscular atrophy (sma) is a neurodegenerative disorder resulting from functional loss of survival motor neuron 1 (smn1). |
2008-04-22 |
2023-08-12 |
Not clear |
| Tatiana O Gavrilina, Vicki L McGovern, Eileen Workman, Thomas O Crawford, Rocky G Gogliotti, Christine J DiDonato, Umrao R Monani, Glenn E Morris, Arthur H M Burghe. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Human molecular genetics. vol 17. issue 8. 2008-04-21. PMID:18178576. |
spinal muscular atrophy (sma) is caused by loss of the survival motor neuron gene (smn1) and retention of the smn2 gene. |
2008-04-21 |
2023-08-12 |
mouse |
| Leonie A Menke, Bwee Tien Poll-The, Sally-Ann Clur, Catia M Bilardo, Allard C van der Wal, Henny H Lemmink, Jan Maarten Cobbe. Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. American journal of medical genetics. Part A. vol 146A. issue 6. 2008-04-16. PMID:18266240. |
spinal muscular atrophy type i (sma i) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (smn1). |
2008-04-16 |
2023-08-12 |
Not clear |
| Darlise DiMatteo, Stephanie Callahan, Eric B Kmie. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Experimental cell research. vol 314. issue 4. 2008-04-07. PMID:18078930. |
genetic conversion of an smn2 gene to smn1: a novel approach to the treatment of spinal muscular atrophy. |
2008-04-07 |
2023-08-12 |
human |
| Darlise DiMatteo, Stephanie Callahan, Eric B Kmie. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Experimental cell research. vol 314. issue 4. 2008-04-07. PMID:18078930. |
spinal muscular atrophy (sma), a recessive, neuromuscular disease, is caused by a mutation or deletion in the smn1 gene. |
2008-04-07 |
2023-08-12 |
human |
| Ilsa Gómez-Curet, Karyn G Robinson, Vicky L Funanage, Thomas O Crawford, Mena Scavina, Wenlan Wan. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. vol 8. issue 4. 2008-04-03. PMID:17647030. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (smn1). |
2008-04-03 |
2023-08-12 |
human |
| Tsuyoshi Kashima, Nishta Rao, Charles J David, James L Manle. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Human molecular genetics. vol 16. issue 24. 2008-03-14. PMID:17884807. |
homozygous deletion or mutation of the survival of motor neuron 1 gene (smn1) causes spinal muscular atrophy. |
2008-03-14 |
2023-08-12 |
Not clear |
| Chung-Yee Yuo, Hui-Hua Lin, Ya-Sian Chang, Wen-Kuang Yang, Jan-Gowth Chan. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Annals of neurology. vol 63. issue 1. 2008-03-12. PMID:17924536. |
spinal muscular atrophy (sma) is a common inherited neuromuscular disorder caused by homozygous loss of function of the survival motor neuron 1 (smn1) gene. |
2008-03-12 |
2023-08-12 |
Not clear |
| C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, C Brah. Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. Journal of medical genetics. vol 45. issue 1. 2008-01-22. PMID:17932121. |
spinal muscular atrophy (sma) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (smn1). |
2008-01-22 |
2023-08-12 |
Not clear |
| Tie Zou, Raju Ilangovan, Furong Yu, Zuoshang Xu, Jianhua Zho. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochemical and biophysical research communications. vol 364. issue 4. 2007-12-18. PMID:17964281. |
deletion or mutation of the survival of motor neuron (smn1) gene causes spinal muscular atrophy (sma), a motor neuron degenerative disease. |
2007-12-18 |
2023-08-12 |
mouse |
| Jérémie Vitte, Coralie Fassier, Francesco D Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier-Veber, Jean Paul Bonnefont, Judith Melk. Refined characterization of the expression and stability of the SMN gene products. The American journal of pathology. vol 171. issue 4. 2007-11-26. PMID:17717146. |
spinal muscular atrophy (sma) is characterized by degeneration of lower motor neurons and caused by mutations of the smn1 gene. |
2007-11-26 |
2023-08-12 |
human |
| Laura Alias, Maria J Barceló, Ignasi Gich, Marta Estapé, Juan Parra, Maria Amenedo, Montserrat Baiget, Eduardo F Tizzan. Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy. European journal of human genetics : EJHG. vol 15. issue 10. 2007-11-21. PMID:17625510. |
evidence of a segregation ratio distortion of smn1 alleles in spinal muscular atrophy. |
2007-11-21 |
2023-08-12 |
Not clear |