TY - JOUR AU - Munsat, T. L. AU - Davies, K. E. PY - 1992 DA - 1992// TI - International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) JO - Neuromuscul Disord VL - 2 UR - https://doi.org/10.1016/S0960-8966(06)80015-5 DO - 10.1016/S0960-8966(06)80015-5 ID - Munsat1992 ER - TY - JOUR AU - Lefebvre, S. AU - Burglen, L. AU - Reboullet, S. AU - Clermont, O. AU - Burlet, P. AU - Viollet, L. AU - Benichou, B. AU - Cruaud, C. AU - Millasseau, P. AU - Zeviani, M. PY - 1995 DA - 1995// TI - Identification and characterization of a spinal muscular atrophy-determining gene JO - Cell VL - 80 UR - https://doi.org/10.1016/0092-8674(95)90460-3 DO - 10.1016/0092-8674(95)90460-3 ID - Lefebvre1995 ER - TY - JOUR AU - Rochette, C. F. AU - Gilbert, N. AU - Simard, L. R. PY - 2001 DA - 2001// TI - SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens JO - Hum Genet VL - 108 UR - https://doi.org/10.1007/s004390100473 DO - 10.1007/s004390100473 ID - Rochette2001 ER - TY - JOUR AU - Lorson, C. L. AU - Hahnen, E. AU - Androphy, E. J. AU - Wirth, B. PY - 1999 DA - 1999// TI - A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy JO - Proc Natl Acad Sci USA VL - 96 UR - https://doi.org/10.1073/pnas.96.11.6307 DO - 10.1073/pnas.96.11.6307 ID - Lorson1999 ER - TY - JOUR AU - Monani, U. R. AU - Lorson, C. L. AU - Parsons, D. W. AU - Prior, T. W. AU - Androphy, E. J. AU - Burghes, A. H. AU - McPherson, J. D. PY - 1999 DA - 1999// TI - A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 JO - Hum Mol Genet VL - 8 UR - https://doi.org/10.1093/hmg/8.7.1177 DO - 10.1093/hmg/8.7.1177 ID - Monani1999 ER - TY - JOUR AU - Burnett, B. G. AU - Munoz, E. AU - Tandon, A. AU - Kwon, D. Y. AU - Sumner, C. J. AU - Fischbeck, K. H. PY - 2009 DA - 2009// TI - Regulation of SMN protein stability JO - Mol Cell Biol VL - 29 UR - https://doi.org/10.1128/MCB.01262-08 DO - 10.1128/MCB.01262-08 ID - Burnett2009 ER - TY - JOUR AU - Lorson, C. L. AU - Androphy, E. J. PY - 2000 DA - 2000// TI - An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN JO - Hum Mol Genet VL - 9 UR - https://doi.org/10.1093/hmg/9.2.259 DO - 10.1093/hmg/9.2.259 ID - Lorson2000 ER - TY - JOUR AU - Burghes, A. H. AU - Beattie, C. E. PY - 2009 DA - 2009// TI - Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? JO - Nat Rev Neurosci VL - 10 UR - https://doi.org/10.1038/nrn2670 DO - 10.1038/nrn2670 ID - Burghes2009 ER - TY - JOUR AU - Zhang, H. L. AU - Pan, F. AU - Hong, D. AU - Shenoy, S. M. AU - Singer, R. H. AU - Bassell, G. J. PY - 2003 DA - 2003// TI - Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization JO - J Neurosci VL - 23 ID - Zhang2003 ER - TY - JOUR AU - Heier, C. R. AU - DiDonato, C. J. PY - 2009 DA - 2009// TI - Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo JO - Hum Mol Genet VL - 18 UR - https://doi.org/10.1093/hmg/ddp030 DO - 10.1093/hmg/ddp030 ID - Heier2009 ER - TY - JOUR AU - Hua, Y. AU - Zhou, J. PY - 2004 DA - 2004// TI - Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus JO - Cell Mol Life Sci VL - 61 UR - https://doi.org/10.1007/s00018-004-4300-z DO - 10.1007/s00018-004-4300-z ID - Hua2004 ER - TY - JOUR AU - Mattis, V. B. AU - Bowerman, M. AU - Kothary, R. AU - Lorson, C. L. PY - 2008 DA - 2008// TI - A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein JO - Neurosci Lett VL - 442 UR - https://doi.org/10.1016/j.neulet.2008.06.059 DO - 10.1016/j.neulet.2008.06.059 ID - Mattis2008 ER - TY - JOUR AU - Wolstencroft, E. C. AU - Mattis, V. AU - Bajer, A. A. AU - Young, P. J. AU - Lorson, C. L. PY - 2005 DA - 2005// TI - A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi131 DO - 10.1093/hmg/ddi131 ID - Wolstencroft2005 ER - TY - JOUR AU - Mattis, V. B. AU - Rai, R. AU - Wang, J. AU - Chang, C. W. AU - Coady, T. AU - Lorson, C. L. PY - 2006 DA - 2006// TI - Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts JO - Hum Genet VL - 120 UR - https://doi.org/10.1007/s00439-006-0245-7 DO - 10.1007/s00439-006-0245-7 ID - Mattis2006 ER - TY - JOUR AU - Mattis, V. B. AU - Ebert, A. D. AU - Fosso, M. Y. AU - Chang, C. W. AU - Lorson, C. L. PY - 2009 DA - 2009// TI - Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model JO - Hum Mol Genet VL - 18 UR - https://doi.org/10.1093/hmg/ddp333 DO - 10.1093/hmg/ddp333 ID - Mattis2009 ER - TY - JOUR AU - Yang, C. AU - Feng, J. AU - Song, W. AU - Wang, J. AU - Tsai, B. AU - Zhang, Y. AU - Scaringe, W. A. AU - Hill, K. A. AU - Margaritis, P. AU - High, K. A. PY - 2007 DA - 2007// TI - A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin JO - Proc Natl Acad Sci USA VL - 104 UR - https://doi.org/10.1073/pnas.0610878104 DO - 10.1073/pnas.0610878104 ID - Yang2007 ER - TY - JOUR AU - Chang, C. W. AU - Hui, Y. AU - Elchert, B. AU - Wang, J. AU - Li, J. AU - Rai, R. PY - 2002 DA - 2002// TI - Pyranmycins, a novel class of aminoglycosides with improved acid stability: the SAR of D-pyranoses on ring III of pyranmycin JO - Org Lett VL - 4 UR - https://doi.org/10.1021/ol0269042 DO - 10.1021/ol0269042 ID - Chang2002 ER - TY - JOUR AU - Le, T. T. AU - Pham, L. T. AU - Butchbach, M. E. AU - Zhang, H. L. AU - Monani, U. R. AU - Coovert, D. D. AU - Gavrilina, T. O. AU - Xing, L. AU - Bassell, G. J. AU - Burghes, A. H. PY - 2005 DA - 2005// TI - SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi078 DO - 10.1093/hmg/ddi078 ID - Le2005 ER - TY - JOUR AU - Zhang, J. AU - Chiang, F. I. AU - Wu, L. AU - Czyryca, P. G. AU - Li, D. AU - Chang, C. W. PY - 2008 DA - 2008// TI - Surprising alteration of antibacterial activity of 5"-modified neomycin against resistant bacteria JO - J Med Chem VL - 51 UR - https://doi.org/10.1021/jm800997s DO - 10.1021/jm800997s ID - Zhang2008 ER - TY - JOUR AU - Butchbach, M. E. AU - Edwards, J. D. AU - Burghes, A. H. PY - 2007 DA - 2007// TI - Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy JO - Neurobiol Dis VL - 27 UR - https://doi.org/10.1016/j.nbd.2007.04.009 DO - 10.1016/j.nbd.2007.04.009 ID - Butchbach2007 ER - TY - JOUR AU - Rose, F. F. AU - Mattis, V. B. AU - Rindt, H. AU - Lorson, C. L. PY - 2009 DA - 2009// TI - Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy JO - Hum Mol Genet VL - 18 UR - https://doi.org/10.1093/hmg/ddn426 DO - 10.1093/hmg/ddn426 ID - Rose2009 ER -