| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Christian M Simon, Sibylle Jablonka, Rocio Ruiz, Lucia Tabares, Michael Sendtne. Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy. Human molecular genetics. vol 19. issue 6. 2010-06-10. PMID:20022887. |
proximal spinal muscular atrophy (sma) is caused by homozygous loss or mutation of the smn1 gene on human chromosome 5. |
2010-06-10 |
2023-08-12 |
mouse |
| Simona Pedrotti, Pamela Bielli, Maria Paola Paronetto, Fabiola Ciccosanti, Gian Maria Fimia, Stefan Stamm, James L Manley, Claudio Sett. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. The EMBO journal. vol 29. issue 7. 2010-05-03. PMID:20186123. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the smn1 gene. |
2010-05-03 |
2023-08-12 |
Not clear |
| Wilfried Rossoll, Gary J Bassel. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. Results and problems in cell differentiation. vol 48. 2010-04-22. PMID:19343312. |
spinal muscular atrophy (sma) is a neurodegenerative disease that results from loss of function of the smn1 gene, encoding the ubiquitously expressed survival of motor neuron (smn) protein, a protein best known for its housekeeping role in the smn-gemin multiprotein complex involved in spliceosomal small nuclear ribonucleoprotein (snrnp) assembly. |
2010-04-22 |
2023-08-12 |
Not clear |
| Marco A Passini, Jie Bu, Eric M Roskelley, Amy M Richards, S Pablo Sardi, Catherine R O'Riordan, Katherine W Klinger, Lamya S Shihabuddin, Seng H Chen. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. The Journal of clinical investigation. vol 120. issue 4. 2010-04-21. PMID:20234094. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a deficiency of survival motor neuron (smn) due to mutations in the smn1 gene. |
2010-04-21 |
2023-08-12 |
mouse |
| Dirk Bäumer, Sheena Lee, George Nicholson, Joanna L Davies, Nicholas J Parkinson, Lyndsay M Murray, Thomas H Gillingwater, Olaf Ansorge, Kay E Davies, Kevin Talbo. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS genetics. vol 5. issue 12. 2010-04-02. PMID:20019802. |
spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the smn1 gene leading to reduced levels of full-length functional smn protein. |
2010-04-02 |
2023-08-12 |
mouse |
| Sungchan Cho, Gideon Dreyfus. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes & development. vol 24. issue 5. 2010-03-17. PMID:20194437. |
spinal muscular atrophy (sma) is caused by homozygous survival of motor neurons 1 (smn1) gene deletions, leaving a duplicate gene, smn2, as the sole source of smn protein. |
2010-03-17 |
2023-08-12 |
Not clear |
| Rocky G Gogliotti, Suzan M Hammond, Cathleen Lutz, Christine J Didonat. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochemical and biophysical research communications. vol 391. issue 1. 2010-03-15. PMID:19961830. |
proximal spinal muscular atrophy (sma) results from loss of the survival motor neuron 1 (smn1) gene, with retention of its nearly identical homolog, smn2. |
2010-03-15 |
2023-08-12 |
mouse |
| Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martin. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Human mutation. vol 31. issue 1. 2010-03-12. PMID:19953646. |
spinal muscular atrophy (sma) is a common neuromuscular disorder caused by homozygous inactivation of the smn1 (survival motor neuron 1) gene. |
2010-03-12 |
2023-08-12 |
Not clear |
| Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, Rosa Lomastro, Sonia Messina, Claudio Bruno, Antonella Pini, Marika Pane, Adele D'Amico, Alessandro Ghezzo, Enrico Bertini, Eugenio Mercuri, Giovanni Neri, Christina Brah. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. European journal of human genetics : EJHG. vol 18. issue 1. 2010-02-22. PMID:19603064. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the smn1 gene. |
2010-02-22 |
2023-08-12 |
Not clear |
| Philippe Corcia, William Camu, Julien Praline, Paul H Gordon, Patrick Vourch, Christian Andre. The importance of the SMN genes in the genetics of sporadic ALS. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. vol 10. issue 5-6. 2010-02-18. PMID:19922137. |
the human genome contains two smn (survival motor neuron) genes: smn1, the telomeric gene whose homozygous deletion causes spinal muscular atrophy (sma), and smn2, the centromeric version whose copy number modulates the phenotype of sma. |
2010-02-18 |
2023-08-12 |
human |
| Hong Liu, Dina Shafey, Justin N Moores, Rashmi Kothar. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. Journal of neuroscience research. vol 88. issue 1. 2010-01-26. PMID:19642194. |
deletions or mutations in survival of motor neuron 1 (smn1) cause motor neuron loss and spinal muscular atrophy (sma), a neuromuscular disorder, with the most severe type manifesting in utero. |
2010-01-26 |
2023-08-12 |
mouse |
| 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 |