| Single-dose gene-replacement therapy for spinal muscular atrophy JR Mendell, S Al-Zaidy, R Shell, WD Arnold, LR Rodino-Klapac, TW Prior, ... New England Journal of Medicine 377 (18), 1713-1722, 2017 | 2059 | 2017 |
| 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 | 1126 | 1999 |
| Astrocytes from familial and sporadic ALS patients are toxic to motor neurons AM Haidet-Phillips, ME Hester, CJ Miranda, K Meyer, L Braun, A Frakes, ... Nature biotechnology 29 (9), 824-828, 2011 | 897 | 2011 |
| The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn–/–mice and results in a mouse with spinal muscular atrophy UR Monani, M Sendtner, DD Coovert, DW Parsons, C Andreassi, TT Le, ... Human molecular genetics 9 (3), 333-339, 2000 | 880 | 2000 |
| RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN KD Foust, X Wang, VL McGovern, L Braun, AK Bevan, AM Haidet, TT Le, ... Nature biotechnology 28 (3), 271-274, 2010 | 857 | 2010 |
| The survival motor neuron protein in spinal muscular atrophy DD Coovert, TT Le, PE McAndrew, J Strasswimmer, TO Crawford, ... Human molecular genetics 6 (8), 1205-1214, 1997 | 845 | 1997 |
| Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? AHM Burghes, CE Beattie Nature Reviews Neuroscience 10 (8), 597-609, 2009 | 844 | 2009 |
| The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle EE Zubrzycka-Gaarn, DE Bulman, G Karpati, AHM Burghes, B Belfall, ... Nature 333 (6172), 466-469, 1988 | 821 | 1988 |
| SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full … TT Le, LT Pham, MER Butchbach, HL Zhang, UR Monani, DD Coovert, ... Human molecular genetics 14 (6), 845-857, 2005 | 690 | 2005 |
| Myoblast transfer in the treatment of Duchenne's muscular dystrophy JR Mendell, JT Kissel, AA Amato, W King, L Signore, TW Prior, Z Sahenk, ... New England Journal of Medicine 333 (13), 832-838, 1995 | 655 | 1995 |
| Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number PE McAndrew, DW Parsons, LR Simard, C Rochette, PN Ray, JR Mendell, ... The American Journal of Human Genetics 60 (6), 1411-1422, 1997 | 626 | 1997 |
| 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 | 617 | 1998 |
| Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding ML McWhorter, UR Monani, AHM Burghes, CE Beattie The Journal of cell biology 162 (5), 919-932, 2003 | 522 | 2003 |
| Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 MD Mailman, JW Heinz, AC Papp, PJ Snyder, MS Sedra, B Wirth, ... Genetics in Medicine 4 (1), 20-26, 2002 | 433 | 2002 |
| Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders AK Bevan, S Duque, KD Foust, PR Morales, L Braun, L Schmelzer, ... Molecular Therapy 19 (11), 1971-1980, 2011 | 405 | 2011 |
| Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs F Gabanella, MER Butchbach, L Saieva, C Carissimi, AHM Burghes, ... PloS one 2 (9), e921, 2007 | 395 | 2007 |
| Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS K Meyer, L Ferraiuolo, CJ Miranda, S Likhite, S McElroy, S Renusch, ... Proceedings of the National Academy of Sciences 111 (2), 829-832, 2014 | 383 | 2014 |
| Valproic acid increases SMN levels in spinal muscular atrophy patient cells CJ Sumner, TN Huynh, JA Markowitz, JS Perhac, B Hill, DD Coovert, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 383 | 2003 |
| Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia S Acharyya, MER Butchbach, Z Sahenk, H Wang, M Saji, M Carathers, ... Cancer cell 8 (5), 421-432, 2005 | 357 | 2005 |
| Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy SB Malhotra, KA Hart, HJ Klamut, NST Thomas, SE Bodrug, ... Science 242 (4879), 755-759, 1988 | 349 | 1988 |
