Induced pluripotent stem cells from a spinal muscular atrophy patient AD Ebert, J Yu, FF Rose Jr, VB Mattis, CL Lorson, JA Thomson, ... Nature 457 (7227), 277-280, 2009 | 1937 | 2009 |
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy CL Lorson, E Hahnen, EJ Androphy, B Wirth Proceedings of the National Academy of Sciences 96 (11), 6307-6311, 1999 | 1768 | 1999 |
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 UR Monani, CL Lorson, DW Parsons, TW Prior, EJ Androphy, ... Human molecular genetics 8 (7), 1177-1183, 1999 | 1138 | 1999 |
SMN oligomerization defect correlates with spinal muscular atrophy severity CL Lorson, J Strasswimmer, JM Yao, JD Baleja, E Hahnen, B Wirth, T Le, ... Nature genetics 19 (1), 63-66, 1998 | 619 | 1998 |
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN CL Lorson, EJ Androphy Human molecular genetics 9 (2), 259-265, 2000 | 540 | 2000 |
Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) Y Hofmann, CL Lorson, S Stamm, EJ Androphy, B Wirth Proceedings of the National Academy of Sciences 97 (17), 9618-9623, 2000 | 414 | 2000 |
Evolutionary analysis of the Delta and Delta Plus variants of the SARS-CoV-2 viruses SR Kannan, AN Spratt, AR Cohen, SH Naqvi, HS Chand, TP Quinn, ... Journal of autoimmunity 124, 102715, 2021 | 264 | 2021 |
Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease? M Shababi, CL Lorson, SS Rudnik‐Schöneborn Journal of anatomy 224 (1), 15-28, 2014 | 260 | 2014 |
Spinal muscular atrophy: mechanisms and therapeutic strategies CL Lorson, H Rindt, M Shababi Human molecular genetics 19 (R1), R111-R118, 2010 | 249 | 2010 |
Cardiac defects contribute to the pathology of spinal muscular atrophy models M Shababi, J Habibi, HT Yang, SM Vale, WA Sewell, CL Lorson Human molecular genetics 19 (20), 4059-4071, 2010 | 231 | 2010 |
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis TL Carrel, ML McWhorter, E Workman, H Zhang, EC Wolstencroft, ... Journal of Neuroscience 26 (43), 11014-11022, 2006 | 211 | 2006 |
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1 PJ Young, CJ DiDonato, D Hu, R Kothary, EJ Androphy, CL Lorson Human molecular genetics 11 (5), 577-587, 2002 | 180 | 2002 |
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy UR Monani, MT Pastore, TO Gavrilina, S Jablonka, TT Le, C Andreassi, ... The Journal of cell biology 160 (1), 41-52, 2003 | 175 | 2003 |
A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy PJ Young, PM Day, J Zhou, EJ Androphy, GE Morris, CL Lorson Journal of Biological Chemistry 277 (4), 2852-2859, 2002 | 167 | 2002 |
A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels EC Wolstencroft, V Mattis, AA Bajer, PJ Young, CL Lorson Human Molecular Genetics 14 (9), 1199-1210, 2005 | 163 | 2005 |
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA ML Zhang, CL Lorson, EJ Androphy, J Zhou Gene therapy 8 (20), 1532-1538, 2001 | 161 | 2001 |
Identification of survival motor neuron as a transcriptional activator-binding protein J Strasswimmer, CL Lorson, DE Breiding, JJ Chen, T Le, AHM Burghes, ... Human molecular genetics 8 (7), 1219-1226, 1999 | 158 | 1999 |
The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding CL Lorson, EJ Androphy Human molecular genetics 7 (8), 1269-1275, 1998 | 140 | 1998 |
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy FF Rose Jr, VB Mattis, H Rindt, CL Lorson Human molecular genetics 18 (6), 997-1005, 2009 | 138 | 2009 |
Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice JJ Glascock, EY Osman, TH Coady, FF Rose, M Shababi, CL Lorson JoVE (Journal of Visualized Experiments), e2968, 2011 | 133 | 2011 |