| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Florence Rage, Nawal Boulisfane, Khalil Rihan, Henry Neel, Thierry Gostan, Edouard Bertrand, Rémy Bordonné, Johann Sore. Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization. RNA (New York, N.Y.). vol 19. issue 12. 2014-01-17. PMID:24152552. |
spinal muscular atrophy is a neuromuscular disease resulting from mutations in the smn1 gene, which encodes the survival motor neuron (smn) protein. |
2014-01-17 |
2023-08-12 |
Not clear |
| Justin G Boyer, Lyndsay M Murray, Kyle Scott, Yves De Repentigny, Jean-Marc Renaud, Rashmi Kothar. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skeletal muscle. vol 3. issue 1. 2013-11-15. PMID:24119341. |
the childhood neuromuscular disease spinal muscular atrophy (sma) is caused by mutations or deletions of the survival motor neuron (smn1) gene. |
2013-11-15 |
2023-08-12 |
mouse |
| Katherine V Bricceno, Paul J Sampognaro, James P Van Meerbeke, Charlotte J Sumner, Kenneth H Fischbeck, Barrington G Burnet. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human molecular genetics. vol 21. issue 20. 2013-06-21. PMID:22798624. |
spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (smn1) gene and deficient expression of the ubiquitously expressed smn protein. |
2013-06-21 |
2023-08-12 |
mouse |
| Marco A Passini, Seng H Chen. Prospects for the gene therapy of spinal muscular atrophy. Trends in molecular medicine. vol 17. issue 5. 2011-08-30. PMID:21334976. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by a deficiency of functional smn protein because of mutations in smn1. |
2011-08-30 |
2023-08-12 |
Not clear |
| Chia-Yen Wu, Dosh Whye, Lisa Glazewski, Leila Choe, Douglas Kerr, Kelvin H Lee, Robert W Mason, Wenlan Wan. Proteomic assessment of a cell model of spinal muscular atrophy. BMC neuroscience. vol 12. 2011-06-21. PMID:21385431. |
deletion or mutation(s) of the survival motor neuron 1 (smn1) gene causes spinal muscular atrophy (sma), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. |
2011-06-21 |
2023-08-12 |
mouse |
| Hong Liu, Ariane Beauvais, Adam N Baker, Catherine Tsilfidis, Rashmi Kothar. Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy. Developmental neurobiology. vol 71. issue 2. 2011-04-18. PMID:20862739. |
we have used this model to study spinal muscular atrophy (sma), an autosomal recessive neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 gene (smn1). |
2011-04-18 |
2023-08-12 |
mouse |
| 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 |
| 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 |
| Michael P Walker, T K Rajendra, Luciano Saieva, Jennifer L Fuentes, Livio Pellizzoni, A Gregory Mater. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Human molecular genetics. vol 17. issue 21. 2009-02-10. PMID:18689355. |
spinal muscular atrophy (sma) is a recessive neuromuscular disease caused by mutations in the human survival motor neuron 1 (smn1) gene. |
2009-02-10 |
2023-08-12 |
mouse |
| 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 |
| Yi-Ning Su, Chia-Cheng Hung, Hung Li, Chien-Nan Lee, Wen-Fang Cheng, Po-Nien Tsao, Ming-Cheng Chang, Chia-Li Yu, Wu-Shiun Hsieh, Win-Li Lin, Su-Ming Hs. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Human mutation. vol 25. issue 5. 2006-06-05. PMID:15832310. |
autosomal recessive spinal muscular atrophy (sma) is a common, fatal neuromuscular disease caused by homozygous absence of the smn1 gene in approximately 94% of patients. |
2006-06-05 |
2023-08-12 |
Not clear |
| Hung-Yi Kao, Yi-Ning Su, Hsin-Kai Liao, Ming S Liu, Yu-Ju Che. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. Clinical chemistry. vol 52. issue 3. 2006-04-13. PMID:16439605. |
spinal muscular atrophy (sma) is a common inherited and fatal neuromuscular disease caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes smn1 and smn2. |
2006-04-13 |
2023-08-12 |
Not clear |
| Y Sun, M Grimmler, V Schwarzer, F Schoenen, U Fischer, B Wirt. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Human mutation. vol 25. issue 1. 2006-02-27. PMID:15580564. |
the autosomal recessive spinal muscular atrophy (sma), a neuromuscular disease and frequent cause of early death in childhood, is caused in 96% of patients by homozygous absence of the survival motor neuron gene (smn1). |
2006-02-27 |
2023-08-12 |
Not clear |
| Wenlan Wang, Darlise Dimatteo, Vicky L Funanage, Mena Scavin. Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Molecular genetics and metabolism. vol 85. issue 1. 2005-09-26. PMID:15862279. |
spinal muscular atrophy (sma) is a neuromuscular disease caused by deletions or mutations in the telomeric copy of the survival motor neuron (smn1) gene. |
2005-09-26 |
2023-08-12 |
Not clear |
| Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, Klaus Zerre. Determination of SMN1 and SMN2 copy number using TaqMan technology. Human mutation. vol 22. issue 1. 2003-08-11. PMID:12815596. |
infantile spinal muscular atrophy (sma) is a neuromuscular disease caused by homozygous deletion of the smn1 gene in more than 90% of patients. |
2003-08-11 |
2023-08-12 |
Not clear |
| Sarah E Whitehead, Kevin W Jones, Xing Zhang, Xiaodong Cheng, Rebecca M Terns, Michael P Tern. Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. The Journal of biological chemistry. vol 277. issue 50. 2003-01-28. PMID:12244096. |
deletion or mutation of the smn1 (survival of motor neurons) gene causes the common, fatal neuromuscular disease spinal muscular atrophy. |
2003-01-28 |
2023-08-12 |
Not clear |