Publication List

 Original Research

  1. 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 2021; 12:1444. 

  2. Kong LL, 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, Lutz CM, Stephan AH, Zhao X, Weetall M, Naryshkin NA, Crawford TO, Mentis GZ, Sumner CJ. Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science Translational Medicine 2021; 13(578).

  3. 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. Mol Sys Biol 2020;16(12):e9701.

  4. Zaccor NW, Sumner, CJ, Snyder, SH. The nonselective cation channel TRPV4 inhibits angiotensin II receptors. J Biol Chem 2020;295(29):9986-9997.

  5. Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell JT, Yang Y, Mamah C, Aisenberg WH, Saavedra-Rivera PS, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, Sumner CJ*, Lloyd TE*. TRPV4 disrupts mitochondrial transport and causes axonal degeneration via CaMKII-dependent increases of intracellular Ca2+. Nature Communications 2020;11:2679.

  6. Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium,* Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S (*member INC). Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics 2020; 52: 473-481.

  7. Dupont C, Novak K, Denman K, Myers J, Sullivan JM, Walker PV 2nd, Brown NL, Ladle DR, Bogdanik L, Lutz CM, Voss A, Sumner CJ, Rich MM. TRPV4 antagonism prevents stretch-induced myotonia in a mouse model of myotonia congenital. Annals of Neurology 2020.

  8. Sullivan JM, Motley WW, Johnson JO, Aisenberg W, ... Gaudet R, Traynor BJ, and Sumner CJ. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. Journal Clinical Investigation 2020;130: 1506-1512.

  9. Fridman V, Sillau S, Acsadi Gyula, Bacon C, Bray K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laura M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pareyson D, Pisciotta C, Piscosquito G, Ramchandran S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Wilcox J, Walk D, Yum SW, Zuchner S, Scherer SS, Reilly MM, Shy ME. A longitudinal study of CMT1A using Rasch analysis based on CMT neuropathy and examination scores. Neurology 2020;94:e884-e896.

  10. Ramos D, d’Ydewalle C, Valdivia D, Hatem CL, Gabbeta V, Dakka A, Taylor SJ, Zaworski PG, Swoboda KJ, Prior TW, Snyder PJ, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Age dependent SMN expression in disease relevant tissue and implications for SMA treatment. Journal of Clinical Investigation 2019,129:4817-4831.

  11.  Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG. Dominant collagen XII mutations cause a distal myopathy. Annals of Clinical and Translational Neurology 2019, 6 :1980-1988.

  12. Pilato CM, Park J-H, Kong L, d’Ydewalle C, Valdivia D, Chen K, Griswold-Prenner I, Sumner CJ. Motor neuron loss in SMA is not associated with somal stress activated JNK/cJun signaling. Human Molecular Genetics 2019, 28:3282-3292.

  13. Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano E, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrilo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology 2019;6:932-944.

  14. 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, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Modifier gene candidates in Charcot Marie Tooth disease type IA: a case only genome wide association study. Journal of Neuromuscular Disorders 2019;6:201-211.

  15. Tao F, Beecham GW, Rebelo A, Blanton S, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Herrmann D, Day J, Sumner CJ, Lloyd T, Li J, Yum S, Bass F, Choi B-O, Pareyson D, Scherer SS, Reilly MM, Inherited Neuropathy Consortium, Shy ME, Zuchener S. Variation in SIPA1L2 is correlated with phenotype modification in CMT type IA. Annals of Neurology 2019;85:316-330.

  16. Thomas S, Ajroud-Driss S, Dimachkie MM, Gibbons C, Freeman R, Simpson DM, Singleton JR, Smith AG; PNRR Study Group*, Höke A (*consortium member). Peripheral neuropathy research registry: a prospective cohort. Journal of the Peripheral Neuropathy Society 2020; 24:39-47.

  17. Scherer PC, Zaccor NW, Neumann N, Vasavda C, Barrow R, Ewald A, Rao F, Sumner CJ, Synder SH. TRPV1 is a physiological regulator of mu-opioid receptors. Proceedings of the National Academy of Sciences 2017; 114(51):13561-13566. 

  18. Vasavda C, Zaccor NW, Scherer PC, Sumner CJ, Synder SH. Measuring G-protein coupled receptor signaling via radiolabeled GTP binding. Journal Visual Experiments 2017; 124.

  19. 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 2017;93:66-79.

  20. Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva I, Zorzato F, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel D, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Franzini-Armstrong C, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. DHPR (CACNA1S) congenital myopathy. Acta Neuropathologica 2017;133:517-533.

  21. Chhabra A, Carrino JA, Farahani SJ, Thawait GK, Sumner CJ, Wadhwa V, Chaudhry V, Lloyd TE. Whole Body MR Neurography: Prospective Feasibility Study in Polyneuropathy and Charcot Marie Tooth Disease. J Magn Reson Imaging 2016;44:1513-1521.

  22. Sullivan J, Zimanyi CM, Aisenberg W, Bears B, Chen D-H, 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. Neurol Genet 2015;1:e29.

  23. 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, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Gentoype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations of MPZ gene. Brain 2015;138:3180-3192.

  24. Miller N, Feng Z, Cai Q, Yang B, Cantu J, Topczewski J, Crawford TO, Ko CP, Sumner CJ, Ma L, and Ma YC. Non-aggregating tau phosphorylation contributes to motor neuron degeneration in spinal muscular atrophy. J Neurosci 2015;35:6038-6050.

  25. Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Sumner CJ, Ko CP, Lorson CL. Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet 2015;24:4094-102.

  26. 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, Muntoni M, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SE, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME, on behalf of the Inherited Neuropathies Consortium.  CMT Subtypes and Disease Burden in Patients Enrolled in the Inherited Neuropathies Consortium Natural History Study: a Cross Sectional Analysis. J Neurol Neurosurg Psychiatry 2015;86:873-8.

  27. Wong CO, Lin YQ, Chen K, Chao Y, Duraine L, 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 2014;84:764-77.

  28. Bricceno KV, Martinez TL, Duguez S, Partridge TA, Fischbeck KH, Sumner CJ and Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet 2014;23:4745-57.

  29. Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, and Pellizzoni L. SMN is essential for the biogenesis of U7 small nuclear ribonuclearprotein and 3’-end formation of histone mRNAs. Cell Rep 2013;12:11187-1195.

  30. 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, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, and Houlden H. Dominant mutation of FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet, 2013;93:976-983.

  31. Paez-Colasante X, Seaberg B, Martinez TL, Kong L, Sumner CJ, Rimer M.  Improvement of neuromuscular synaptic defects without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLOS One 2013;8:e75866.

  32. 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, and Sumner CJ. The DcpS inhibitor RG3039 improved motor function in SMA mice.  Hum Mol Genet 2013;22:4074-4083.

  33. Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH and Burnett BG. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Hum Mol Genet 2012;12:4448-4459.

  34. 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. SMN in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci 2012;32(25):8703-15.

  35. Landoure G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs RJ, Gaudet R, Ludlow C, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Exome sequencing identifies a novel TRPV4 mutation in a family with CMT2C. Neurology 2012;79:192-194.

  36. 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 Radiol 2012;41:763-74. 

  37. Bosch-Marcé M, Wee CD, Martinez TL, Lipkes CE, Choe DW, Kong L, Musaro A, Sumner CJ.  Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.  Hum Mol Genet 2011;20:1844-53.

  38. Mentis GZ, Liu W, Blivis D, 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 2011;69:453-467.

  39. Zimoń, M, Baets, J, Auer-Grumbach, M, Berciano, J, Garcia, A, Lopez-Laso, E, Merlini, L, Hilton-Jones, D, McEntagart, M, Crosby, A, Barisic, N, Boltshauser, E, Shaw, CE, Landouré, G, Ludlow, CL, Gaudet, R, Houlden, H, Reilly, M., Fischbeck, KH, Sumner, CJ, Timmerman, V, Jordanova, A, De Jonghe, P. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010;133:1798-809.

  40. Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics 2010;42:170-4.

  41. Palazzolo I, Stack C, Kong L, Taylor JP, Musaro A, Adachi H, Katsuno M, Sobue G, 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 2009;63:316-28.

  42. Sumner CJ, Wee CD, Warsing LC, Choe DW, Ng AS, Lutz C, Wagner KR.  Inhibition of myostatin does not ameliorate disease features of severe SMA mice. Hum Mol Genet 2009;18:3145-52.

  43. Kong L, Wang X, Choe DW, Polley M, Bosch- Marcé, Griffin JW, Rich MM, Sumner CJ. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 2009;29:842-51.

  44. Burnett BG, Muñoz E, Tandon A, Sumner CJ, Fischbeck KH.  Regulation of SMN protein stability. Mol Cell Biol 2009;11:1107-15.

  45. Narver HL, Kong L, Burnett BG, Choe DW, Bosch M, Taye AA, Eckhaus MA, Sumner CJ.  Sustained improvement of SMA mice with trichostatin A plus nutrition. Ann Neurol 2008;64:465-70.

  46. Babowska JC, Wang H, Zin B, Sumner CJ, Blackstone C.  Lack of spartin protein in Troyer syndrome suggests a loss-of-function mechanism. Arch Neurol 2007;65:520-4.

  47. Avila AM, Burnett BB, Taye AA, Gabenella F, Knight M, Hartenstein P, Cizman Z, DiProspero NA, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in spinal muscular atrophy mice. Journal Clinical Investigation 2007;117:659-71.

  48. Di Prospero N, Sumner CJ, Taylor JP, Fischbeck KH.  Safety, tolerability, and pharmacokinetics of high dose Idebenone in patients with Friedreich’s ataxia. Arch Neurol 2007;64:803-8.

  49. Kolb S, 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 Neurol 2006;6:6.

  50. 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 2006;66:1067-73.

  51. Levy J,* Sumner CJ,* Tokito M, Ligon LA, LaMonte B, Wallace KE, Harmison G, Puls I, Fischbeck KH, Holzbaur, ELF. A G59S dynactin mutation that causes motor neuron degeneration induces loss of function and protein aggregation. J Cell Biol 2006;172:733-745. 

  52. Gupta A, Sumner CJ, Castor M, Maslanka S, Sobel J. Botulism Type F in the United States, 1981 to 2002. Neurology 2005;65:1694-1700.

  53. Kernochan LE, Woodling NS, Avila AM, Huynh TN, Fischbeck KH, Sumner, CJ. The role of histone acetylation in survival motor neuron gene expression. Hum Mol Genet 2005;14(9):1171-1182.

  54. Puls I, Oh SJ, Sumner CJ ,Wallace K, Holzbaur E, Mann EA, Floeter MK, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Bidus K, Fischbeck KF, Ludlow CL.  Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 2005;57:687-694.

  55. Lunn MR, Root DE, Martino AM, Flaherty SP, Kelley BP, Coovert DD, Burghes AH, thi Man N, Morris GE, Zhou J, Androphy EJ, Sumner CJ, Stockwell BR. Indoprofen upregulates the survival motor neuron (SMN) protein through a cyclooxygenase-independent mechanism. Chem Biol  2004;11:1489-1493.

  56. Sumner CJ, Huynh TN, Markowitz JA, Perhac JP, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AHM, Taylor JP, Fischbeck KH. Valproic acid increases SMN levels in spinal muscular atrophy patient-derived cell lines. Ann Neurol  2003;54:647-654.

  57. Sumner CJ, Sheth S, Griffin JW, Cornblath DR, Polydefkis MJ. The spectrum of neuropathy in diabetes and impaired glucose tolerance. Neurology, 2003;60:108-111.

  58. Sumner CJ, Shinohara T, Durham L, Traub R, Major EO, Amemiya K. Expression of multiple classes of nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes. J Neurovirol 1996;2:87-100.

Review Articles

  1. Ravi B, Chan-Cortés MH, Sumner CJ. Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy. Annual Review of Medicine 2021; 72:1-14.

  2. Ravi B, Antonellis A, Sumner CJ, Leiberman A. Genetic approaches to the treatment of inherited neuromuscular disease. Human Molecular Genetics 2019;28(R1):F55-F64. 

  3. Sumner CJ, Crawford TO. Two breakthrough gene targeted treatments for spinal muscular atrophy: challenges remain. Journal of Clinical Investigation 2018;2018: 3219-3227.

  4. Landouré G, Samassékon O, Traoré M, Meileur KG, Oumar GC, Burnett BB, Sumner CJ, Fischbeck KH. Genetics and genomic medicine in Mali: challenges and future perspectives. Mol Genet Genomic Med. 2016;4:126-34.

  5. d’Ydewalle C and Sumner CJ. SMA therapeutics: Where do we stand? Neurotherapeutics 2015;12:303-16.

  6. Schindler A, Sumner C, Hoover-Fong J. TRPV4 associated Disorders. GeneReviews 2014 (http://www.ncbi.nlm.nih.gov/books/NKB1116/).

  7. Sumner, CJ. Spinal muscular atrophy, John Griffin, and mentorship. JPeripher Nerv Syst 2012;Suppl 3:52-6.

  8. Van Meerbeke J and Sumner CJ. Progress and promise: The current status of spinal muscular atrophy therapeutics. Discov Med 2011;12:291-305.

  9. Wee C, Kong L, Sumner CJ. The genetics of spinal muscular atrophies. Curr Opin Neurol 2010;23:450-8.

  10. Burnett BG, Crawford TO, Sumner CJ. Emerging treatment options for spinal muscular atrophy. Curr Treat Options Neurol 2009;11:90-101.

  11. Sumner CJ. Molecular mechanisms of spinal muscular atrophy. J Child Neurol 2007;22:979-89.

  12. Sumner, CJ. Therapeutics development in spinal muscular atrophy. Neurotherapeutics 2006;3:235-245.

Case Reports

  1. Freund B, Hayes L, Rivera Lara L, Sumner CJ, Chaudhry V, Chatham-Stephens K, Blythe D, Brooks R, Probasco JC. Adult botulism colonization mimicking brain death. Muscle and Nerve 2017; Accepted.

  2. Sumner CJ, Newman M, Hereema A, Jay C. Apparent relapse of a spinal mycobacterial infection after highly active retroviral therapy. Neurology 2003;61:139-140.

  3. Sumner CJ, Fischbeck KH. Jaw drop in Kennedy’s disease. Neurology 2002;59:1471-1472.

  4. Sumner CJ, Golden JA, Hemphill C. Should thrombolysis be contraindicated in patients with cerebral ateriovenous malformations? Crit Care Med 2002;30:2359-2362.

Books

  1. Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Editors: Sumner CJ, Paushkin S, and Ko CP. Elsevier/Academic Press. 2016.

Book chapters

  1. Wooley J, Crowder ME, Pyles NJ, Sumner CJ. Spinal Muscular Atrophy. In: Neurodegeneration, edited by Zbigniew K. Wszolek, Anthony Schapira, Ted Dawson, and Nick Wood, Johns Wiley and Sons, Hoboken, NJ, 2017.

  2.  Perez-García MJ, Kong L, Sumner CJ, and Tizzano E. Developmental aspects and pathological findings in SMA. In: Spinal muscular atrophy : disease mechanisms and therapy, edited by Sumner CJ, Paushkin S, and Ko CP. Elsevier, USA, 2016.

  3. Sullivan JM, Lloyd TE, Sumner CJ. Hereditary channelopathies caused by TRPV4 mutations. In: Pathologies of Calcium Channels, edited by Weiss N and Koschak A. Springer, Berlin, Germany, 2014:413-440.

  4. Sumner CJ, Fischbeck KH. Spinal Muscular Atrophy. In: Neurobiology of Disease, edited by Gilman S. Elsevier, San Diego CA, 2006.

  5. Sumner CJ. Inflammatory Neuropathies: Guillan-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy. In: Treatment of Pediatric Neurologic Disorders, edited by Singer HS, Crawford TO, Kossoff EH, Hartman AL. Marcel Dekker, Inc. New York, NY, 2004.

  6. Piccioni, F, Sumner CJ, Fischeck CJ. Androgen receptor and spinal and bulbar muscular atrophy. In: Zinc Finger Proteins, edited by Iuchi S and Kuldell N. Landes Bioscience, Georgetown TX, 2004.

  7. Sumner CJ, Fischbeck. Kennedy’s Disease. In: Motor Neuron Disorders, edited by Shaw PJ, Strong M. Butterworth-Heinmann, Woburn MA, 2002:425-434.

  8. Atwood W, Sumner CJ, Major EO. Molecular mechanisms of the pathogenesis of progressive multifocal leukoencephalopathy: a JC virus induced demyelinating disease of the human brain. In: Viral Pathogenesis in the Nervous System, edited by Kurara T. Sarkon, Tokoyo, Japan, 1995:133-146.

Editorials

  1. Brandsema JF and Sumner CJ. Spinal Muscular Atrophy: Further Expanding the Clinician’s Armamentarium. Neurology 2018;93(14):613-614.

  2. Sullivan J, Landouré G, Gaudet R, and Sumner CJ. TRPV4 neuropathy-causing mutations localize to the convex faceof the ankyrin repeat domain. Neurology 2014;83:1991.

  3. Burnett, BG and Sumner CJ. Targeting splicing in spinal muscular atrophy. Annals of Neurology 2008;60:3-6.

Other Media/ News

  1. "Sofia’s Story: Will gene-targeting therapies offer unprecedented outcomes for children born with the severest forms of spinal muscular atrophy?" Featured in the spring 2020 issue of Hopkins Children's magazine.