Charlotte Sumner - Publications

Affiliations: 
Johns Hopkins University, Baltimore, MD 
Area:
Neuroscience Biology

46 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
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  0.4
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  0.4
2016 Chhabra A, Carrino JA, Farahani SJ, Thawait GK, Sumner CJ, Wadhwa V, Chaudhary V, Lloyd TE. Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease. Journal of Magnetic Resonance Imaging : Jmri. PMID 27126998 DOI: 10.1002/jmri.25293  0.4
2015 Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, et al. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : a Journal of Neurology. 138: 3180-92. PMID 26310628 DOI: 10.1093/brain/awv241  0.4
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  0.4
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  0.4
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  0.4
2014 Wong CO, Chen K, Lin YQ, Chao Y, Duraine L, Lu Z, Yoon WH, Sullivan JM, Broadhead GT, Sumner CJ, Lloyd TE, Macleod GT, Bellen HJ, Venkatachalam K. A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission. Neuron. 84: 764-77. PMID 25451193 DOI: 10.1016/j.neuron.2014.09.030  0.4
2014 Sullivan JM, Landouré G, Gaudet R, Sumner CJ. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology. 83: 1991. PMID 25404646 DOI: 10.1212/WNL.0000000000001041  0.4
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  0.4
2013 Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L. SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs. Cell Reports. 5: 1187-95. PMID 24332368 DOI: 10.1016/j.celrep.2013.11.012  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
2012 Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology. 79: 192-4. PMID 22675077 DOI: 10.1212/WNL.0b013e31825f04b2  0.4
2012 Wadhwa V, Thakkar RS, Maragakis N, Höke A, Sumner CJ, Lloyd TE, Carrino JA, Belzberg AJ, Chhabra A. Sciatic nerve tumor and tumor-like lesions - uncommon pathologies. Skeletal Radiology. 41: 763-74. PMID 22410805 DOI: 10.1007/s00256-012-1384-7  0.4
2011 Van Meerbeke JP, Sumner CJ. Progress and promise: the current status of spinal muscular atrophy therapeutics. Discovery Medicine. 12: 291-305. PMID 22031667  0.4
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  0.4
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  0.4
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  0.4
2010 Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Sumner CJ, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/brain/awq109  0.4
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  0.4
2009 Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M. Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron. 63: 316-28. PMID 19679072 DOI: 10.1016/j.neuron.2009.07.019  0.4
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  0.4
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  0.4
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  0.4
2009 Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Molecular and Cellular Biology. 29: 1107-15. PMID 19103745 DOI: 10.1128/MCB.01262-08  0.4
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  0.4
2008 Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? Archives of Neurology. 65: 520-4. PMID 18413476 DOI: 10.1001/archneur.65.4.520  0.4
2008 Burnett BG, Sumner CJ. Targeting splicing in spinal muscular atrophy. Annals of Neurology. 63: 3-6. PMID 18232015 DOI: 10.1002/ana.21305  0.4
2007 Sumner CJ. Molecular mechanisms of spinal muscular atrophy. Journal of Child Neurology. 22: 979-89. PMID 17761653 DOI: 10.1177/0883073807305787  0.4
2007 Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Archives of Neurology. 64: 803-8. PMID 17562928 DOI: 10.1001/archneur.64.6.803  0.4
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  0.4
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  0.4
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  0.4
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  0.4
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  0.4
2005 Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ. The role of histone acetylation in SMN gene expression. Human Molecular Genetics. 14: 1171-82. PMID 15772088 DOI: 10.1093/hmg/ddi130  0.4
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  0.4
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  0.4
2003 Sumner CJ, Newman M, Jay CA. Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection. Neurology. 61: 139-40. PMID 12847179  0.4
2002 Sumner CJ, Fischbeck KH. Jaw drop in Kennedy's disease. Neurology. 59: 1471-2. PMID 12427914  0.4
2002 Sumner CJ, Golden JA, Hemphill JC. Should thrombolysis be contraindicated in patients with cerebral arteriovenous malformations? Critical Care Medicine. 30: 2359-62. PMID 12394968 DOI: 10.1097/01.CCM.0000025211.61411.59  0.4
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