| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Francesco Roselli, Pico Caron. A circuit mechanism for neurodegeneration. Cell. vol 151. issue 2. 2012-12-28. PMID:23063119. |
how deficiency in smn1 selectively affects motoneurons in spinal muscular atrophy is poorly understood. |
2012-12-28 |
2023-08-12 |
Not clear |
| Maamouri-Hicheri Wieme, Hammer Monia Ben, Bouhlal Yosr, Souilem Sihem, Toumi Nawel, Manai-Azizi Ines, Bennour Wajdi, Khmiri Najla, Nahdi Houda, Hentati Faycal, Amouri Ri. Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 21. issue 3. 2012-11-30. PMID:22847162. |
spinal muscular atrophy (sma) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (smn1). |
2012-11-30 |
2023-08-12 |
Not clear |
| Virginia B Mattis, Cheng-Wei Tom Chang, Christian L Lorso. Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy. Neuroscience letters. vol 525. issue 1. 2012-11-27. PMID:22819971. |
spinal muscular atrophy (sma) is the leading genetic cause of infantile death and caused by the loss of functional survival motor neuron 1 (smn1). |
2012-11-27 |
2023-08-12 |
mouse |
| C Thauvin-Robinet, S Drunat, P Saugier Veber, D Chantereau, M Cossée, C Cassini, P Soichot, A Masurel-Paulet, J V De Monléon, P Sagot, F Huet, M Antin, N Calmels, L Faivre, B Gérar. Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. American journal of medical genetics. Part A. vol 158A. issue 7. 2012-11-13. PMID:22678974. |
homozygous smn1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. |
2012-11-13 |
2023-08-12 |
human |
| C Thauvin-Robinet, S Drunat, P Saugier Veber, D Chantereau, M Cossée, C Cassini, P Soichot, A Masurel-Paulet, J V De Monléon, P Sagot, F Huet, M Antin, N Calmels, L Faivre, B Gérar. Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. American journal of medical genetics. Part A. vol 158A. issue 7. 2012-11-13. PMID:22678974. |
we report on a rare homozygous intragenic deletion encompassing exons 1-6 of the smn1 gene in a patient with spinal muscular atrophy (sma) born into a consanguineous family. |
2012-11-13 |
2023-08-12 |
human |
| Kentaro Sahashi, Yimin Hua, Karen K Y Ling, Gene Hung, Frank Rigo, Guy Horev, Masahisa Katsuno, Gen Sobue, Chien-Ping Ko, C Frank Bennett, Adrian R Kraine. TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals. Genes & development. vol 26. issue 16. 2012-10-29. PMID:22895255. |
spinal muscular atrophy (sma) is a motor neuron disease caused by loss-of-function mutations in the smn1 gene. |
2012-10-29 |
2023-08-12 |
mouse |
| Claudia Fallini, Gary J Bassell, Wilfried Rossol. Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. Brain research. vol 1462. 2012-10-12. PMID:22330725. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of motor neuron (smn1) gene, encoding the ubiquitously expressed smn protein. |
2012-10-12 |
2023-08-12 |
Not clear |
| Eileen Workman, Stephen J Kolb, Daniel J Battl. Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Brain research. vol 1462. 2012-10-12. PMID:22424789. |
mutations in the smn1 gene result in the motor neuron disease, spinal muscular atrophy (sma). |
2012-10-12 |
2023-08-12 |
Not clear |
| Denise Locatelli, Mineko Terao, Maddalena Fratelli, Adriana Zanetti, Mami Kurosaki, Monica Lupi, Maria Monica Barzago, Andrea Uggetti, Silvia Capra, Paolo D'Errico, Giorgio S Battaglia, Enrico Garattin. Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C-C motif ligand 2 (CCL2), and insulin-like growth factor-1 (IGF1) production. The Journal of biological chemistry. vol 287. issue 31. 2012-10-11. PMID:22669976. |
spinal muscular atrophy is a fatal genetic disease of motoneurons due to loss of full-length survival of motor neuron protein, the main product of the disease gene smn1. |
2012-10-11 |
2023-08-12 |
mouse |
| Saif Ahmad, Yi Wang, Gouse M Shaik, Arthur H Burghes, Laxman Gangwan. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Human molecular genetics. vol 21. issue 12. 2012-10-09. PMID:22422766. |
spinal muscular atrophy (sma) is caused by mutation of the survival motor neurons 1 (smn1) gene and is characterized by degeneration of spinal motor neurons. |
2012-10-09 |
2023-08-12 |
mouse |
| Sunghee Cho, Heegyum Moon, Xiaoming Yang, Jianhua Zhou, Hye-Ran Kim, Myung-Geun Shin, Tiing Jen Loh, Xuexiu Zheng, Haihong She. Validation of trans-acting elements that promote exon 7 skipping of SMN2 in SMN2-GFP stable cell line. Biochemical and biophysical research communications. vol 423. issue 3. 2012-09-20. PMID:22683329. |
spinal muscular atrophy is a genetic disease in which the smn1 gene is deleted. |
2012-09-20 |
2023-08-12 |
Not clear |
| Thomas W Bebee, Catherine E Dominguez, Dawn S Chandle. Mouse models of SMA: tools for disease characterization and therapeutic development. Human genetics. vol 131. issue 8. 2012-09-17. PMID:22543872. |
spinal muscular atrophy (sma) is a neurodegenerative disease that is caused by deletion or mutation of the survival motor neuron gene (smn1). |
2012-09-17 |
2023-08-12 |
mouse |
| Thomas O Crawford, Sergey V Paushkin, Dione T Kobayashi, Suzanne J Forrest, Cynthia L Joyce, Richard S Finkel, Petra Kaufmann, Kathryn J Swoboda, Danilo Tiziano, Rosa Lomastro, Rebecca H Li, Felicia L Trachtenberg, Thomas Plasterer, Karen S Che. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PloS one. vol 7. issue 4. 2012-09-10. PMID:22558076. |
the universal presence of a gene (smn2) nearly identical to the mutated smn1 gene responsible for spinal muscular atrophy (sma) has proved an enticing incentive to therapeutics development. |
2012-09-10 |
2023-08-12 |
Not clear |
| Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, Petra Kaufmann, Peter Juhasz, Xiaohong Li, Yu Guo, Rebecca H Li, Felicia Trachtenberg, Suzanne J Forrest, Dione T Kobayashi, Karen S Chen, Cynthia L Joyce, Thomas Plastere. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PloS one. vol 7. issue 4. 2012-09-10. PMID:22558154. |
spinal muscular atrophy (sma) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (smn1) gene. |
2012-09-10 |
2023-08-12 |
Not clear |
| Addisu Mesfin, Paul D Sponseller, Arabella I Lee. Spinal muscular atrophy: manifestations and management. The Journal of the American Academy of Orthopaedic Surgeons. vol 20. issue 6. 2012-07-24. PMID:22661569. |
spinal muscular atrophy (sma) is an autosomal recessive disorder caused by a homozygous deletion in the smn1 gene and is manifested by loss of the anterior horn cells of the spinal cord. |
2012-07-24 |
2023-08-12 |
Not clear |
| Robert Morse, Adrian G Todd, Philip J Youn. Using mini-genes to identify factors that modulate alternative splicing. Methods in molecular biology (Clifton, N.J.). vol 867. 2012-07-23. PMID:22454072. |
lack of smn is embryonic lethal and loss of smn1 genes leads to a severe decrease in smn protein and is associated with spinal muscular atrophy. |
2012-07-23 |
2023-08-12 |
Not clear |
| Jaber Lyahyai, Aziza Sbiti, Amina Barkat, Ilham Ratbi, Abdelaziz Sefian. Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns. Genetic testing and molecular biomarkers. vol 16. issue 3. 2012-07-16. PMID:21950724. |
spinal muscular atrophy (sma) is one of the most common autosomal recessive diseases caused by homozygous deletion of exon 7 of the survival motor neuron 1 (smn1) gene in approximately 95% of sma patients. |
2012-07-16 |
2023-08-12 |
Not clear |
| b' V\\xc3\\xadctor Caraballo-Miralles, Andrea Cardona-Rossinyol, Ana Garcera, Priam Villalonga, Rosa M Soler, Gabriel Olmos, Jer\\xc3\\xb2nia Llad\\xc3\\xb. SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA. Molecular and cellular neurosciences. vol 49. issue 3. 2012-07-13. PMID:22197680.' |
spinal muscular atrophy (sma) is a neurodegenerative disease that affects alpha motoneurons in the spinal cord caused by homozygous deletion or specific mutations in the survival motoneuron-1 (smn1) gene. |
2012-07-13 |
2023-08-12 |
Not clear |
| Erkan Y Osman, Pei-Fen Yen, Christian L Lorso. Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy. Molecular therapy : the journal of the American Society of Gene Therapy. vol 20. issue 1. 2012-07-11. PMID:22031236. |
spinal muscular atrophy (sma) is a neurodegenerative disease caused by loss of survival motor neuron-1 (smn1). |
2012-07-11 |
2023-08-12 |
mouse |
| Mélissa Bowerman, Lyndsay M Murray, Ariane Beauvais, Bruno Pinheiro, Rashmi Kothar. A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscular disorders : NMD. vol 22. issue 3. 2012-07-09. PMID:22071333. |
spinal muscular atrophy (sma) is caused by mutations/deletions within the smn1 gene and characterized by loss of lower motor neurons and skeletal muscle atrophy. |
2012-07-09 |
2023-08-12 |
mouse |