The spectrum of neuropathy in diabetes and impaired glucose tolerance CJ Sumner, S Sheth, JW Griffin, DR Cornblath, M Polydefkis Neurology 60 (1), 108-111, 2003 | 1004 | 2003 |
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice L Kong, X Wang, DW Choe, M Polley, BG Burnett, M Bosch-Marcé, ... Journal of Neuroscience 29 (3), 842-851, 2009 | 476 | 2009 |
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy AM Avila, BG Burnett, AA Taye, F Gabanella, MA Knight, P Hartenstein, ... The Journal of clinical investigation 117 (3), 659-671, 2007 | 447 | 2007 |
Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy GZ Mentis, D Blivis, W Liu, E Drobac, ME Crowder, L Kong, FJ Alvarez, ... Neuron 69 (3), 453-467, 2011 | 408 | 2011 |
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 | 392 | 2003 |
Regulation of SMN protein stability BG Burnett, E Munoz, A Tandon, DY Kwon, CJ Sumner, KH Fischbeck Molecular and cellular biology, 2009 | 372 | 2009 |
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C G Landouré, AA Zdebik, TL Martinez, BG Burnett, HC Stanescu, H Inada, ... Nature genetics 42 (2), 170-174, 2010 | 371 | 2010 |
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis V Fridman, B Bundy, MM Reilly, D Pareyson, C Bacon, J Burns, J Day, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (8), 873-878, 2015 | 366 | 2015 |
Distal spinal and bulbar muscular atrophy caused by dynactin mutation I Puls, SJ Oh, CJ Sumner, KE Wallace, MK Floeter, EA Mann, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 253 | 2005 |
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy I Palazzolo, C Stack, L Kong, A Musaro, H Adachi, M Katsuno, G Sobue, ... Neuron 63 (3), 316-328, 2009 | 239 | 2009 |
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy TL Martinez, L Kong, X Wang, MA Osborne, ME Crowder, ... Journal of Neuroscience 32 (25), 8703-8715, 2012 | 220 | 2012 |
A motor neuron disease–associated mutation in p150Glued perturbs dynactin function and induces protein aggregation JR Levy, CJ Sumner, JP Caviston, MK Tokito, S Ranganathan, LA Ligon, ... The Journal of cell biology 172 (5), 733-745, 2006 | 219 | 2006 |
Spinal muscular atrophy E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel Nature Reviews Disease Primers 8 (1), 52, 2022 | 215 | 2022 |
The role of histone acetylation in SMN gene expression LE Kernochan, ML Russo, NS Woodling, TN Huynh, AM Avila, ... Human molecular genetics 14 (9), 1171-1182, 2005 | 207 | 2005 |
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism MR Lunn, DE Root, AM Martino, SP Flaherty, BP Kelley, DD Coovert, ... Chemistry & biology 11 (11), 1489-1493, 2004 | 200 | 2004 |
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition HL Narver, L Kong, BG Burnett, DW Choe, M Bosch‐Marcé, AA Taye, ... Annals of neurology 64 (4), 465-470, 2008 | 195 | 2008 |
Neurofilament as a potential biomarker for spinal muscular atrophy BT Darras, TO Crawford, RS Finkel, E Mercuri, DC De Vivo, M Oskoui, ... Annals of clinical and translational neurology 6 (5), 932-944, 2019 | 192 | 2019 |
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment DM Ramos, C d’Ydewalle, V Gabbeta, A Dakka, SK Klein, DA Norris, ... The Journal of clinical investigation 129 (11), 4817-4831, 2019 | 167 | 2019 |
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ... Brain 133 (6), 1798-1809, 2010 | 156 | 2010 |
The antisense transcript SMN-AS1 regulates SMN expression and is a novel therapeutic target for spinal muscular atrophy C d’Ydewalle, DM Ramos, NJ Pyles, SY Ng, M Gorz, CM Pilato, K Ling, ... Neuron 93 (1), 66-79, 2017 | 139 | 2017 |