| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Laura Alías, Sara Bernal, Pablo Fuentes-Prior, María Jesus Barceló, Eva Also, Rebeca Martínez-Hernández, Francisco J Rodríguez-Alvarez, Yolanda Martín, Elena Aller, Elena Grau, Ana Peciña, Guillermo Antiñolo, Enrique Galán, Alberto L Rosa, Miguel Fernández-Burriel, Salud Borrego, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Human genetics. vol 125. issue 1. 2009-02-02. PMID:19050931. |
mutation update of spinal muscular atrophy in spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the smn1 gene. |
2009-02-02 |
2023-08-12 |
Not clear |
| Laura Alías, Sara Bernal, Pablo Fuentes-Prior, María Jesus Barceló, Eva Also, Rebeca Martínez-Hernández, Francisco J Rodríguez-Alvarez, Yolanda Martín, Elena Aller, Elena Grau, Ana Peciña, Guillermo Antiñolo, Enrique Galán, Alberto L Rosa, Miguel Fernández-Burriel, Salud Borrego, José M Millán, Concepción Hernández-Chico, Montserrat Baiget, Eduardo F Tizzan. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Human genetics. vol 125. issue 1. 2009-02-02. PMID:19050931. |
spinal muscular atrophy (sma) is caused by mutations in the smn1 gene. |
2009-02-02 |
2023-08-12 |
Not clear |
| Tristan H Coady, Travis D Baughan, Monir Shababi, Marco A Passini, Christian L Lorso. Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PloS one. vol 3. issue 10. 2009-01-13. PMID:18941511. |
spinal muscular atrophy (sma) is caused by loss of smn1. |
2009-01-13 |
2023-08-12 |
mouse |
| Jasbir Singh, Michael Salcius, Shin-Wu Liu, Bart L Staker, Rama Mishra, John Thurmond, Gregory Michaud, Dawn R Mattoon, John Printen, Jeffery Christensen, Jon Mar Bjornsson, Brian A Pollok, Megerditch Kiledjian, Lance Stewart, Jill Jarecki, Mark E Gurne. DcpS as a therapeutic target for spinal muscular atrophy. ACS chemical biology. vol 3. issue 11. 2008-12-31. PMID:18839960. |
spinal muscular atrophy (sma) is caused by deletion or mutation of both copies of the smn1 gene, which produces an essential protein known as smn. |
2008-12-31 |
2023-08-12 |
Not clear |
| S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerre. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. Journal of medical genetics. vol 45. issue 10. 2008-12-10. PMID:18662980. |
homozygous deletions/mutations of the smn1 gene cause infantile spinal muscular atrophy (sma). |
2008-12-10 |
2023-08-12 |
Not clear |
| Hung-Hsi Chen, Jan-Growth Chang, Ruei-Min Lu, Tsui-Yi Peng, Woan-Yuh Tar. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Molecular and cellular biology. vol 28. issue 22. 2008-11-13. PMID:18794368. |
spinal muscular atrophy (sma) is a recessive neuromuscular disorder caused by the homozygous loss of the smn1 gene. |
2008-11-13 |
2023-08-12 |
mouse |
| Goran Simi. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta neuropathologica. vol 116. issue 3. 2008-11-10. PMID:18629520. |
although it is known that deletions or mutations of the smn1 gene on chromosome 5 cause decreased levels of the smn protein in subjects with proximal autosomal recessive spinal muscular atrophy (sma), the exact sequence of pathological events leading to selective motoneuron cell death is not fully understood yet. |
2008-11-10 |
2023-08-12 |
human |
| Chun-Chi Wang, Jan-Gowth Chang, Jerome Ferrance, Hsin-Yi Chen, Chung-Yee You, Yung-Fu Chang, Yuh-Jyh Jong, Shou-Mei Wu, Chao-Hung Ye. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. vol 29. issue 13. 2008-09-30. PMID:18546169. |
quantification of smn1 and smn2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. |
2008-09-30 |
2023-08-12 |
Not clear |
| Chun-Chi Wang, Jan-Gowth Chang, Jerome Ferrance, Hsin-Yi Chen, Chung-Yee You, Yung-Fu Chang, Yuh-Jyh Jong, Shou-Mei Wu, Chao-Hung Ye. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. vol 29. issue 13. 2008-09-30. PMID:18546169. |
spinal muscular atrophy (sma) is an inherited neuromuscular disorder deleted or mutated in smn1 gene and retained at least one copy of smn2 gene. |
2008-09-30 |
2023-08-12 |
Not clear |
| Monique A Lorson, Alexa M Dickson, Debra J Shaw, Adrian G Todd, Elizabeth C Young, Robert Morse, Catherine Wolstencroft, Christian L Lorson, Philip J Youn. Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Biochemical and biophysical research communications. vol 375. issue 1. 2008-09-09. PMID:18675250. |
mutations in the smn1 gene cause the autosomal recessive disorder spinal muscular atrophy (sma). |
2008-09-09 |
2023-08-12 |
Not clear |
| Van Khanh Tran, Teguh Haryo Sasongko, Dang Diem Hong, Nguyen Thi Hoan, Vu Chi Dung, Myeong Jin Lee, Gunadi, Yasuhiro Takeshima, Masafumi Matsuo, Hisahide Nishi. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy. Pediatrics international : official journal of the Japan Pediatric Society. vol 50. issue 3. 2008-07-31. PMID:18533950. |
the smn1 gene is now recognized as a spinal muscular atrophy (sma)-causing gene, while smn2 and naip have been characterized as a modifying factor of the clinical severity of sma. |
2008-07-31 |
2023-08-12 |
Not clear |
| 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 |