Charlotte Sumner - Publications

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

84 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
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  1
2021 Crawford TO, Sumner CJ. Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases. The Journal of Clinical Investigation. 131. PMID 34338226 DOI: 10.1172/JCI152817  1
2021 Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhury V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, et al. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 34103343 DOI: 10.1136/jnnp-2020-325437  1
2021 McCray BA, Diehl E, Sullivan JM, Aisenberg WH, Zaccor NW, Lau AR, Rich DJ, Goretzki B, Hellmich UA, Lloyd TE, Sumner CJ. Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. Nature Communications. 12: 1444. PMID 33664271 DOI: 10.1038/s41467-021-21699-y  1
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  1
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  1
2020 Auslander N, Ramos DM, Zelaya I, Karathia H, Crawford TO, Schäffer AA, Sumner CJ, Ruppin E. The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. Molecular Systems Biology. 16: e9701. PMID 33438800 DOI: 10.15252/msb.20209701  1
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  0.01
2020 Zaccor NW, Sumner CJ, Snyder SH. The nonselective cation channel TRPV4 inhibits angiotensin II receptors. The Journal of Biological Chemistry. PMID 32493776 DOI: 10.1074/jbc.RA120.014325  0.01
2020 Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell KT, Yang Y, Mamah C, Aisenberg WH, Saavedra-Rivera PC, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, ... Sumner CJ, et al. TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca. Nature Communications. 11: 2679. PMID 32471994 DOI: 10.1038/S41467-020-16411-5  1
2020 Dupont C, Novak K, Denman K, Myers JH, Sullivan JM, Walker PV, Brown NL, Ladle DR, Bogdanik L, Lutz CM, Voss A, Sumner CJ, Rich MM. TRPV4 antagonism prevents mechanically-induced myotonia. Annals of Neurology. PMID 32418267 DOI: 10.1002/Ana.25780  1
2020 Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, ... ... Sumner CJ, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. The Journal of Clinical Investigation. PMID 32065591 DOI: 10.1172/Jci128152  1
2020 Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, ... ... Sumner CJ, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. PMID 32047073 DOI: 10.1212/Wnl.0000000000009035  1
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  1
2019 Resar LMS, Jaffee EM, Armanios M, Jackson S, Azad NS, Horton MR, Kaplan MJ, Laiho M, Maus MV, Sumner CJ, Wheelan SJ, Wills-Karp M. Equity and diversity in academic medicine: a perspective from the JCI editors. The Journal of Clinical Investigation. PMID 31524636 DOI: 10.1172/Jci130902  0.04
2019 Brandsema JF, Sumner CJ. Spinal muscular atrophy: Further expanding the clinician's armamentarium. Neurology. PMID 31488614 DOI: 10.1212/WNL.0000000000008192  0.01
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  1
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  1
2019 Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, ... ... Sumner CJ, et al. Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology. 6: 932-944. PMID 31139691 DOI: 10.1002/acn3.779  1
2019 Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, ... ... Sumner CJ, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases. PMID 30958311 DOI: 10.3233/Jnd-190377  1
2019 Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, ... ... Sumner CJ, et al. Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology. PMID 30706531 DOI: 10.1002/Ana.25426  1
2019 Muntoni F, Sumner C, Darras B, Crawford T, Finkel R, Mercuri E, Vivo DD, Oskoui M, Tizzano E, Ryan M, Liu Y, Petrillo M, Stebbins C, Koenig E, Fradette S, et al. P.270Association between plasma phosphorylated neurofilament heavy chain and efficacy endpoints in the nusinersen NURTURE study Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.384  0.01
2019 Mohassel P, Liewluck T, Hu Y, Ezzo D, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner C, Dyck P, Wierenga K, Finkel R, Chen J, et al. O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.027  0.08
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  1
2018 Crawford T, Sumner C, Finkel R, Vivo DD, Oskoui M, Tizzano E, Zhao G, Petrillo M, Stebbins C, Farwell W. Sma Therapies Ii And Biomarkers Neuromuscular Disorders. 28. DOI: 10.1016/J.Nmd.2018.06.310  0.04
2017 Scherer PC, Zaccor NW, Neumann NM, Vasavda C, Barrow R, Ewald AJ, Rao F, Sumner CJ, Snyder SH. TRPV1 is a physiological regulator of μ-opioid receptors. Proceedings of the National Academy of Sciences of the United States of America. 114: 13561-13566. PMID 29203659 DOI: 10.1073/Pnas.1717005114  0.01
2017 Vasavda C, Zaccor NW, Scherer PC, Sumner CJ, Snyder SH. Measuring G-protein-coupled Receptor Signaling via Radio-labeled GTP Binding. Journal of Visualized Experiments : Jove. PMID 28654029 DOI: 10.3791/55561  0.01
2017 Freund B, Hayes L, Rivera-Lara L, Sumner C, Chaudhry V, Chatham-Stephens K, Benedict K, Kalb S, Blythe D, Brooks R, Probasco JC. Adult intestinal colonization botulism mimicking brain death. Muscle & Nerve. PMID 28500638 DOI: 10.1002/Mus.25689  0.01
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  1
2016 Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, ... ... Sumner CJ, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathologica. PMID 28012042 DOI: 10.1007/S00401-016-1656-8  0.01
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  1
2016 Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH. Genetics and genomic medicine in Mali: challenges and future perspectives. Molecular Genetics & Genomic Medicine. 4: 126-134. PMID 27066513 DOI: 10.1002/Mgg3.212  1
2015 Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurology. Genetics. 1: e29. PMID 27066566 DOI: 10.1212/Nxg.0000000000000029  1
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  1
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  1
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  1
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  1
2015 Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of Neurology, Neurosurgery, and Psychiatry. 86: 873-8. PMID 25430934 DOI: 10.1136/Jnnp-2014-308826  1
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  1
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  1
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  1
2014 Sullivan JM, Lloyd TE, Sumner CJ. Hereditary channelopathies caused by TRPV4 Mutations Pathologies of Calcium Channels. 413-440. DOI: 10.1007/978-3-642-40282-1_21  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2011 Van Meerbeke JP, Sumner CJ. Progress and promise: the current status of spinal muscular atrophy therapeutics. Discovery Medicine. 12: 291-305. PMID 22031667  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2008 Burnett BG, Sumner CJ. Targeting splicing in spinal muscular atrophy. Annals of Neurology. 63: 3-6. PMID 18232015 DOI: 10.1002/Ana.21305  1
2007 Sumner CJ. Molecular mechanisms of spinal muscular atrophy. Journal of Child Neurology. 22: 979-89. PMID 17761653 DOI: 10.1177/0883073807305787  1
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  1
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  1
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  1
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  1
2006 Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology. 66: 1067-73. PMID 16481599 DOI: 10.1212/01.Wnl.0000201929.56928.13  1
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  1
2005 Gupta A, Sumner CJ, Castor M, Maslanka S, Sobel J. Adult botulism type F in the United States, 1981-2002. Neurology. 65: 1694-700. PMID 16344510 DOI: 10.1212/01.Wnl.0000187127.92446.4C  1
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  1
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  1
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  1
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  1
2003 Sumner CJ, Newman M, Jay CA. Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection. Neurology. 61: 139-40. PMID 12847179  1
2003 Sumner CJ, Sheth S, Griffin JW, Cornblath DR, Polydefkis M. The spectrum of neuropathy in diabetes and impaired glucose tolerance. Neurology. 60: 108-11. PMID 12525727 DOI: 10.1212/WNL.60.1.108  1
2003 Sumner CJ, Fischbeck KH. Chapter 17 Kennedy's Disease Blue Books of Practical Neurology. 28: 425-434,cp1-cp2. DOI: 10.1016/S1877-3419(09)70118-7  1
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  1
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  1
1996 Sumner C, Shinohara T, Durham L, Traub R, Major EO, Amemiya K. Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes. Journal of Neurovirology. 2: 87-100. PMID 8799200 DOI: 10.3109/13550289609146542  0.01
1987 Sumner CJ. Victim Participation in the Criminal Justice System Australian &Amp; New Zealand Journal of Criminology. 20: 195-217. DOI: 10.1177/000486588702000402  1
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