Follow
Charlotte Sumner
Charlotte Sumner
Unknown affiliation
Verified email at jhmi.edu
Title
Cited by
Cited by
Year
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
10042003
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
4762009
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
4472007
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
4082011
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
3922003
Regulation of SMN protein stability
BG Burnett, E Munoz, A Tandon, DY Kwon, CJ Sumner, KH Fischbeck
Molecular and cellular biology, 2009
3722009
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
3712010
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
3662015
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
2532005
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
2392009
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
2202012
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
2192006
Spinal muscular atrophy
E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel
Nature Reviews Disease Primers 8 (1), 52, 2022
2152022
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
2072005
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
2002004
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
1952008
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
1922019
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
1672019
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
1562010
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
1392017
The system can't perform the operation now. Try again later.
Articles 1–20