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Charlotte Sumner - Publications

Affiliations: 
Johns Hopkins University, Baltimore, MD 
Area:
Neuroscience Biology
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44 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, ... ... Sumner CJ, et al. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain : a Journal of Neurology. PMID 38917025 DOI: 10.1093/brain/awae201  0.309
2024 Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, ... ... Sumner CJ, et al. Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Science Translational Medicine. 16: eadk1358. PMID 38776392 DOI: 10.1126/scitranslmed.adk1358  0.408
2023 Glascock J, Darras BT, Crawford TO, Sumner CJ, Kolb SJ, DiDonato C, Elsheikh B, Howell K, Farwell W, Valente M, Petrillo M, Tingey J, Jarecki J. Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. Journal of Neuromuscular Diseases. PMID 37458045 DOI: 10.3233/JND-230054  0.482
2023 Kong L, Hassinan CW, Gerstner F, Buettner JM, Petigrow JB, Valdivia DO, Chan-Cortés MH, Mistri A, Cao A, McGaugh SA, Denton M, Brown S, Ross J, Schwab MH, Simon CM, ... Sumner CJ, et al. Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta Neuropathologica Communications. 11: 53. PMID 36997967 DOI: 10.1186/s40478-023-01551-8  0.653
2022 Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Spinal muscular atrophy. Nature Reviews. Disease Primers. 8: 52. PMID 35927425 DOI: 10.1038/s41572-022-00380-8  0.413
2021 Rich KA, Wier CG, Russo J, Kong L, Heilman PL, Reynolds A, Knapp A, Pino MG, Keckley E, Mattox L, Malbrue RA, Sumner CJ, Buhimschi C, Kolb SJ. Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets. Gene Therapy. PMID 34803165 DOI: 10.1038/s41434-021-00305-2  0.34
2021 Kong L, Valdivia DO, Simon CM, Hassinan CW, Delestrée N, Ramos DM, Park JH, Pilato CM, Xu X, Crowder M, Grzyb CC, King ZA, Petrillo M, Swoboda KJ, Davis C, ... ... Sumner CJ, et al. Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science Translational Medicine. 13. PMID 33504650 DOI: 10.1126/scitranslmed.abb6871  0.445
2021 Ravi B, Chan-Cortés MH, Sumner CJ. Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy. Annual Review of Medicine. 72: 1-14. PMID 33502897 DOI: 10.1146/annurev-med-070119-115459  0.653
2020 Sumner CJ, Sumner AJ. Motor unit gains in treated spinal muscular atrophy patients. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 33106365 DOI: 10.1136/jnnp-2020-325022  0.35
2019 Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, ... ... Sumner CJ, et al. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. The Journal of Clinical Investigation. PMID 31589162 DOI: 10.1172/Jci124120  0.319
2019 Pilato CM, Park JH, Kong L, d'Ydewalle C, Valdivia D, Chen KS, Griswold-Prenner I, Sumner CJ. Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling. Human Molecular Genetics. PMID 31272106 DOI: 10.1093/hmg/ddz150  0.397
2019 Ravi B, Antonellis A, Sumner CJ, Lieberman AP. Genetic approaches to the treatment of inherited neuromuscular diseases. Human Molecular Genetics. PMID 31227836 DOI: 10.1093/Hmg/Ddz131  0.36
2018 Sumner CJ, Crawford TO. Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain. The Journal of Clinical Investigation. PMID 29985170 DOI: 10.1172/Jci121658  0.567
2016 d'Ydewalle C, Ramos DM, Pyles NJ, Ng SY, Gorz M, Pilato CM, Ling K, Kong L, Ward AJ, Rubin LL, Rigo F, Bennett CF, Sumner CJ. The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. Neuron. PMID 28017471 DOI: 10.1016/j.neuron.2016.11.033  0.406
2015 Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD, Sumner CJ, Ko CP, Lorson CL. Astrocytes influence the severity of spinal muscular atrophy. Human Molecular Genetics. 24: 4094-102. PMID 25911676 DOI: 10.1093/Hmg/Ddv148  0.567
2015 Miller N, Feng Z, Edens BM, Yang B, Shi H, Sze CC, Hong BT, Su SC, Cantu JA, Topczewski J, Crawford TO, Ko CP, Sumner CJ, Ma L, Ma YC. Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 6038-50. PMID 25878277 DOI: 10.1523/Jneurosci.3716-14.2015  0.406
2015 d'Ydewalle C, Sumner CJ. Spinal Muscular Atrophy Therapeutics: Where do we Stand? Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 12: 303-16. PMID 25631888 DOI: 10.1007/s13311-015-0337-y  0.468
2014 Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Human Molecular Genetics. 23: 4745-57. PMID 24760765 DOI: 10.1093/Hmg/Ddu189  0.75
2013 Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. American Journal of Human Genetics. 93: 976-83. PMID 24207122 DOI: 10.1016/J.Ajhg.2013.10.006  0.434
2013 Paez-Colasante X, Seaberg B, Martinez TL, Kong L, Sumner CJ, Rimer M. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. Plos One. 8: e75866. PMID 24086650 DOI: 10.1371/journal.pone.0075866  0.772
2013 Van Meerbeke JP, Gibbs RM, Plasterer HL, Miao W, Feng Z, Lin MY, Rucki AA, Wee CD, Xia B, Sharma S, Jacques V, Li DK, Pellizzoni L, Rusche JR, Ko CP, ... Sumner CJ, et al. The DcpS inhibitor RG3039 improves motor function in SMA mice. Human Molecular Genetics. 22: 4074-83. PMID 23727836 DOI: 10.1093/Hmg/Ddt257  0.501
2012 Sumner CJ. Spinal muscular atrophy, John Griffin, and mentorship. Journal of the Peripheral Nervous System : Jpns. 17: 52-6. PMID 23279433 DOI: 10.1111/j.1529-8027.2012.00432.x  0.475
2012 Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human Molecular Genetics. 21: 4448-59. PMID 22798624 DOI: 10.1093/Hmg/Dds286  0.423
2012 Martinez TL, Kong L, Wang X, Osborne MA, Crowder ME, Van Meerbeke JP, Xu X, Davis C, Wooley J, Goldhamer DJ, Lutz CM, Rich MM, Sumner CJ. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 8703-15. PMID 22723710 DOI: 10.1523/Jneurosci.0204-12.2012  0.767
2012 Van Meerbeke J, Gibbs R, Plasterer H, Feng Z, Lin M, Wee C, Xia B, Jacques V, Rusche J, Ko C, Sumner C. The Therapeutic Effects of RG3039 in Severe Spinal Muscular Atrophy Mice and Normal Human Volunteers (SC01.002) Neurology. 78: SC01.002-SC01.002. DOI: 10.1212/Wnl.78.1_Meetingabstracts.Sc01.002  0.535
2012 Crowder M, Polley M, Kong L, Van Meerbeke J, Murphy K, Swoboda K, Crawford T, Sumner C. Motor Unit Pathology in SMA Patients (P03.175) Neurology. 78: P03.175-P03.175. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P03.175  0.553
2011 Van Meerbeke JP, Sumner CJ. Progress and promise: the current status of spinal muscular atrophy therapeutics. Discovery Medicine. 12: 291-305. PMID 22031667  0.44
2011 Bosch-Marcé M, Wee CD, Martinez TL, Lipkes CE, Choe DW, Kong L, Van Meerbeke JP, Musarò A, Sumner CJ. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Human Molecular Genetics. 20: 1844-53. PMID 21325354 DOI: 10.1093/Hmg/Ddr067  0.767
2011 Mentis GZ, Blivis D, Liu W, Drobac E, Crowder ME, Kong L, Alvarez FJ, Sumner CJ, O'Donovan MJ. Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron. 69: 453-67. PMID 21315257 DOI: 10.1016/J.Neuron.2010.12.032  0.484
2010 Wee CD, Kong L, Sumner CJ. The genetics of spinal muscular atrophies. Current Opinion in Neurology. 23: 450-8. PMID 20733483 DOI: 10.1097/WCO.0b013e32833e1765  0.376
2010 Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, ... ... Sumner CJ, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics. 42: 170-4. PMID 20037586 DOI: 10.1038/Ng.512  0.702
2009 Sumner CJ, Wee CD, Warsing LC, Choe DW, Ng AS, Lutz C, Wagner KR. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Human Molecular Genetics. 18: 3145-52. PMID 19477958 DOI: 10.1093/hmg/ddp253  0.486
2009 Burnett BG, Crawford TO, Sumner CJ. Emerging treatment options for spinal muscular atrophy. Current Treatment Options in Neurology. 11: 90-101. PMID 19210911 DOI: 10.1007/S11940-009-0012-X  0.55
2009 Kong L, Wang X, Choe DW, Polley M, Burnett BG, Bosch-Marcé M, Griffin JW, Rich MM, Sumner CJ. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 842-51. PMID 19158308 DOI: 10.1523/Jneurosci.4434-08.2009  0.388
2008 Narver HL, Kong L, Burnett BG, Choe DW, Bosch-Marcé M, Taye AA, Eckhaus MA, Sumner CJ. Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Annals of Neurology. 64: 465-70. PMID 18661558 DOI: 10.1002/Ana.21449  0.311
2007 Sumner CJ. Molecular mechanisms of spinal muscular atrophy. Journal of Child Neurology. 22: 979-89. PMID 17761653 DOI: 10.1177/0883073807305787  0.471
2007 Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of Clinical Investigation. 117: 659-71. PMID 17318264 DOI: 10.1172/Jci29562  0.456
2006 Sumner CJ. Therapeutics development for spinal muscular atrophy. Neurorx : the Journal of the American Society For Experimental Neurotherapeutics. 3: 235-45. PMID 16554261 DOI: 10.1016/j.nurx.2006.01.010  0.495
2006 Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. The Journal of Cell Biology. 172: 733-45. PMID 16505168 DOI: 10.1083/Jcb.200511068  0.379
2006 Kolb SJ, Gubitz AK, Olszewski RF, Ottinger E, Sumner CJ, Fischbeck KH, Dreyfuss G. A novel cell immunoassay to measure survival of motor neurons protein in blood cells. Bmc Neurology. 6: 6. PMID 16451734 DOI: 10.1186/1471-2377-6-6  0.375
2005 Puls I, Oh SJ, Sumner CJ, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Annals of Neurology. 57: 687-94. PMID 15852399 DOI: 10.1002/Ana.20468  0.496
2004 Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, Man NT, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR. Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chemistry & Biology. 11: 1489-93. PMID 15555999 DOI: 10.1016/J.Chembiol.2004.08.024  0.36
2003 Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Annals of Neurology. 54: 647-54. PMID 14595654 DOI: 10.1002/Ana.10743  0.428
2002 Sumner CJ, Fischbeck KH. Jaw drop in Kennedy's disease. Neurology. 59: 1471-2. PMID 12427914 DOI: 10.1212/01.WNL.0000033325.01878.13  0.375
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