| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Virginia B Mattis, Allison D Ebert, Marina Y Fosso, Cheng-Wei Chang, Christian L Lorso. Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Human molecular genetics. vol 18. issue 20. 2010-01-05. PMID:19625298. |
spinal muscular atrophy (sma) is the leading genetic cause of infant mortality and is caused by the loss of a functional smn1 gene. |
2010-01-05 |
2023-08-12 |
human |
| S Rudnik-Schöneborn, C Berg, K Zerres, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, R Helle. Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. Clinical genetics. vol 76. issue 2. 2009-12-09. PMID:19780763. |
we reviewed the natural history and assessed the smn2 copy number of 66 patients with infantile spinal muscular atrophy (sma) type i born between 2000 and 2005 in germany whose diagnosis was confirmed by a homozygous smn1 deletion in the first 6 months of life. |
2009-12-09 |
2023-08-12 |
Not clear |
| Seong-Ho Kang, Sung Im Cho, Jong-Hee Chae, Kyu Nam Chung, Eun Kyung Ra, So Yeon Kim, Moon-Woo Seong, Ji Yeon Kim, Sung Sup Par. False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy. Genetic testing and molecular biomarkers. vol 13. issue 4. 2009-10-26. PMID:19663601. |
false homozygous deletions of smn1 exon 7 using dra i pcr-rflp caused by a novel mutation in spinal muscular atrophy. |
2009-10-26 |
2023-08-12 |
Not clear |
| Seong-Ho Kang, Sung Im Cho, Jong-Hee Chae, Kyu Nam Chung, Eun Kyung Ra, So Yeon Kim, Moon-Woo Seong, Ji Yeon Kim, Sung Sup Par. False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy. Genetic testing and molecular biomarkers. vol 13. issue 4. 2009-10-26. PMID:19663601. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder, and about 95% of sma patients are homozygous for deletions in the smn1 gene. |
2009-10-26 |
2023-08-12 |
Not clear |
| Sanae Irimura, Keiko Kitamura, Nozomu Kato, Kayoko Saiki, Atsuko Takeuchi, Gunadi, Masafumi Matsuo, Hisahide Nishio, Myeong Jin Le. HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1. The Kobe journal of medical sciences. vol 54. issue 5. 2009-10-14. PMID:19628962. |
hnrnp c1/c2 may regulate exon 7 splicing in the spinal muscular atrophy gene smn1. |
2009-10-14 |
2023-08-12 |
Not clear |
| Sanae Irimura, Keiko Kitamura, Nozomu Kato, Kayoko Saiki, Atsuko Takeuchi, Gunadi, Masafumi Matsuo, Hisahide Nishio, Myeong Jin Le. HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1. The Kobe journal of medical sciences. vol 54. issue 5. 2009-10-14. PMID:19628962. |
spinal muscular atrophy (sma) is caused by loss of smn1. |
2009-10-14 |
2023-08-12 |
Not clear |
| Thomas W Prior, Adrian R Krainer, Yimin Hua, Kathryn J Swoboda, Pamela C Snyder, Scott J Bridgeman, Arthur H M Burghes, John T Kisse. A positive modifier of spinal muscular atrophy in the SMN2 gene. American journal of human genetics. vol 85. issue 3. 2009-09-30. PMID:19716110. |
spinal muscular atrophy (sma) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the smn1 gene. |
2009-09-30 |
2023-08-12 |
Not clear |
| Bradley J Turner, Nicholas J Parkinson, Kay E Davies, Kevin Talbo. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiology of disease. vol 34. issue 3. 2009-08-17. PMID:19332122. |
mutations in the ubiquitously expressed survival motor neuron 1 (smn1) and superoxide dismutase 1 (sod1) genes are selectively lethal to motor neurons in spinal muscular atrophy (sma) and familial amyotrophic lateral sclerosis (als), respectively. |
2009-08-17 |
2023-08-12 |
mouse |
| Chun-Chi Wang, Jan-Gowth Chang, Yuh-Jyh Jong, Shou-Mei W. Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. Electrophoresis. vol 30. issue 7. 2009-07-30. PMID:19373809. |
we established a universal multiplex pcr and ce to calculate the copy number of survival motor neuron (smn1 and smn2) genes for clinical screening of spinal muscular atrophy (sma). |
2009-07-30 |
2023-08-12 |
Not clear |
| Jason H Williams, Rebecca C Schray, Carlyn A Patterson, Semira O Ayitey, Melanie K Tallent, Gordon J Lut. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 29. issue 24. 2009-07-17. PMID:19535574. |
spinal muscular atrophy (sma) is caused by homozygous mutation or deletion of the smn1 gene encoding survival of motor neuron (smn) protein, resulting in the selective loss of alpha-motor neurons. |
2009-07-17 |
2023-08-12 |
mouse |
| Chia-Yen Wu, Ilsa Gómez-Curet, Vicky L Funanage, Mena Scavina, Wenlan Wan. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent. BMC cell biology. vol 10. 2009-07-15. PMID:19445707. |
deletion or mutation(s) of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma). |
2009-07-15 |
2023-08-12 |
Not clear |
| Travis D Baughan, Alexa Dickson, Erkan Y Osman, Christian L Lorso. Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Human molecular genetics. vol 18. issue 9. 2009-07-14. PMID:19228773. |
spinal muscular atrophy (sma) is a motor neuron disease caused by the loss of survival motor neuron-1 (smn1). |
2009-07-14 |
2023-08-12 |
mouse |
| Maria Jedrzejowska, Michał Milewski, Janusz Zimowski, Janina Borkowska, Anna Kostera-Pruszczyk, Danuta Sielska, Marta Jurek, Irena Hausmanowa-Petrusewic. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta biochimica Polonica. vol 56. issue 1. 2009-06-19. PMID:19287802. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by mutations of the smn1 gene. |
2009-06-19 |
2023-08-12 |
Not clear |
| Nadia Passon, Federico Pozzo, Cristiano Molinis, Elisa Bregant, Cinzia Gellera, Giuseppe Damante, Renata I Lonigr. A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genetic testing and molecular biomarkers. vol 13. issue 1. 2009-06-15. PMID:19309272. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused, in about 95% of sma cases, by homozygous deletion of the survival motor neuron 1 (smn1) gene or its conversion to the highly homologous smn2 gene. |
2009-06-15 |
2023-08-12 |
Not clear |
| Wan Jin Chen, Wan Juan Dong, Xiao Zhen Lin, Min Ting Lin, Shen Xing Murong, Zhi Ying Wu, Ning Wan. Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis. BMC medical genetics. vol 10. 2009-06-12. PMID:19480685. |
spinal muscular atrophy (sma) is an autosomal recessive hereditary disorder caused by mutations of the survival motor neuron 1 (smn1) gene. |
2009-06-12 |
2023-08-12 |
Not clear |
| Shay Ben-Shachar, Bhattacharjee M Bidwa, Lorraine Potocki, Seema R Lalan. Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. American journal of medical genetics. Part A. vol 149A. issue 3. 2009-04-16. PMID:19215052. |
based on the severity of hypotonia in this infant, molecular analysis for spinal muscular atrophy (sma) was performed and the common homozygous deletion of exon 7 in the survival of motor neuron 1 gene (smn1) was identified. |
2009-04-16 |
2023-08-12 |
Not clear |
| Yi-Ching Chen, Chung-Yee Yuo, Wen-Kuang Yang, Yuh-Jyh Jong, Hui-Hua Lin, Ya-Sian Chang, Jan-Gowth Chan. Extracellular pH change modulates the exon 7 splicing in SMN2 mRNA. Molecular and cellular neurosciences. vol 39. issue 2. 2009-04-08. PMID:18672065. |
spinal muscular atrophy (sma) is caused by homozygous deletions/mutations of smn1 gene. |
2009-04-08 |
2023-08-12 |
Not clear |
| Didem Dayangaç-Erden, Gamze Bora, Peruze Ayhan, Cetin Kocaefe, Sevim Dalkara, Kemal Yelekçi, Ayhan S Demir, Hayat Erdem-Yurte. Histone deacetylase inhibition activity and molecular docking of (e )-resveratrol: its therapeutic potential in spinal muscular atrophy. Chemical biology & drug design. vol 73. issue 3. 2009-04-02. PMID:19207472. |
spinal muscular atrophy is an autosomal recessive motor neuron disease that is caused by mutation of the survival motor neuron gene (smn1) but all patients retain a nearly identical copy, smn2. |
2009-04-02 |
2023-08-12 |
Not clear |
| Mafalda Martins de Araújo, Sophie Bonnal, Michelle L Hastings, Adrian R Krainer, Juan Valcárce. Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA (New York, N.Y.). vol 15. issue 4. 2009-04-01. PMID:19244360. |
spinal muscular atrophy is a prevalent genetic disease caused by mutation of the smn1 gene, which encodes the smn protein involved in assembly of small nuclear ribonucleoprotein (snrnp) complexes. |
2009-04-01 |
2023-08-12 |
Not clear |
| Karl B Shpargel, Kavita Praveen, T K Rajendra, A Gregory Mater. Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Molecular biology of the cell. vol 20. issue 1. 2009-03-27. PMID:18923150. |
loss-of-function mutations in human smn1 result in a neuromuscular disease called spinal muscular atrophy. |
2009-03-27 |
2023-08-12 |
human |