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James J. Dowling, M.D., Ph.D. - Publications

Affiliations: 
Pediatrics, Neurology University of Michigan, Ann Arbor, Ann Arbor, MI 
Area:
Congenital Muscular Disease
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Year Citation  Score
2023 Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, et al. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. Ebiomedicine. 99: 104894. PMID 38086156 DOI: 10.1016/j.ebiom.2023.104894  0.364
2023 Endo Y, Groom L, Wang SM, Pannia E, Griffiths NW, Van Gennip JLM, Ciruna B, Laporte J, Dirksen RT, Dowling JJ. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Human Molecular Genetics. PMID 37930228 DOI: 10.1093/hmg/ddad178  0.378
2023 Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, et al. Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Hgg Advances. 4: 100213. PMID 37457373 DOI: 10.1016/j.xhgg.2023.100213  0.368
2023 Alawneh I, Yuki KE, Amburgey K, Yoon G, Dowling JJ, Hazrati LN, Gonorazky H. Titin related myopathy with ophthalmoplegia. A novel phenotype. Neuromuscular Disorders : Nmd. 33: 605-609. PMID 37393749 DOI: 10.1016/j.nmd.2023.05.003  0.375
2023 Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Marín Gabriel MÁ, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, et al. Variants in underlie distal arthrogryposis accompanied by congenital heart defects. Medrxiv : the Preprint Server For Health Sciences. PMID 36945405 DOI: 10.1101/2023.03.07.23286862  0.39
2022 Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD, Celik A, Liang Y, Onofre-Oliveira P, Dowling JJ. Natural history of a mouse model of X-linked myotubular myopathy. Disease Models & Mechanisms. PMID 35694952 DOI: 10.1242/dmm.049342  0.416
2022 Espinosa KG, Geissah S, Groom L, Volpatti J, Scott IC, Dirksen RT, Zhao M, Dowling JJ. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease Models & Mechanisms. 15. PMID 35293586 DOI: 10.1242/dmm.049437  0.463
2021 Lawlor MW, Dowling JJ. X-linked myotubular myopathy. Neuromuscular Disorders : Nmd. 31: 1004-1012. PMID 34736623 DOI: 10.1016/j.nmd.2021.08.003  0.411
2021 Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ. Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. Human Molecular Genetics. PMID 34568901 DOI: 10.1093/hmg/ddab278  0.347
2021 Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders. Nature Reviews. Molecular Cell Biology. PMID 34257452 DOI: 10.1038/s41580-021-00389-z  0.426
2020 Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skeletal Muscle. 10: 32. PMID 33190635 DOI: 10.1186/s13395-020-00243-4  0.301
2020 Smith L, Fabian L, Al-Maawali A, Noche RR, Dowling JJ. De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. Plos One. 15: e0231364. PMID 32804943 DOI: 10.1371/Journal.Pone.0231364  0.484
2020 Fabian L, Dowling JJ. Zebrafish Models of -Related Congenital Muscular Dystrophy (MDC1A). Frontiers in Molecular Neuroscience. 13: 122. PMID 32742259 DOI: 10.3389/fnmol.2020.00122  0.413
2020 Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, et al. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathologica. PMID 32451610 DOI: 10.1007/S00401-020-02164-4  0.442
2020 Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ. Biallelic LINE insertion mutation in causing congenital myopathy. Neurology. Genetics. 6: e423. PMID 32426512 DOI: 10.1212/Nxg.0000000000000423  0.435
2020 Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019. Orphanet Journal of Rare Diseases. 15: 113. PMID 32381029 DOI: 10.1186/S13023-020-01384-X  0.445
2020 Merico D, Spickett C, O'Hara M, Kakaradov B, Deshwar AG, Fradkin P, Gandhi S, Gao J, Grant S, Kron K, Schmitges FW, Shalev Z, Sun M, Verby M, Cahill M, ... Dowling JJ, et al. variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping. Npj Genomic Medicine. 5: 16. PMID 32284880 DOI: 10.1038/S41525-020-0123-6  0.35
2019 Zhao M, Smith L, Volpatti J, Fabian L, Dowling JJ. Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. Human Molecular Genetics. PMID 31691805 DOI: 10.1093/Hmg/Ddz260  0.449
2019 Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular Disorders : Nmd. PMID 31400830 DOI: 10.1016/J.Nmd.2019.07.002  0.425
2019 Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei-La-Pierre L, Dowling JJ, Dirksen RT. Mouse model of severe recessive RYR1-related myopathy. Human Molecular Genetics. PMID 31107960 DOI: 10.1093/Hmg/Ddz105  0.332
2019 Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J. Signs and Symptoms in Congenital Myopathies. Seminars in Pediatric Neurology. 29: 3-11. PMID 31060723 DOI: 10.1016/J.Spen.2019.01.002  0.309
2019 Lee AJ, Jones KA, Butterfield RJ, Cox MO, Konersman CG, Grosmann C, Abdenur JE, Boyer M, Beson B, Wang C, Dowling JJ, Gibbons MA, Ballard A, Janas JS, Leshner RT, et al. Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G. Neurology. Genetics. 5: e315. PMID 31041397 DOI: 10.1212/Nxg.0000000000000315  0.362
2019 Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, et al. X-linked myotubular myopathy: A prospective international natural history study. Neurology. PMID 30902907 DOI: 10.1212/Wnl.0000000000007319  0.344
2018 Zhao M, Maani N, Dowling JJ. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. PMID 30426359 DOI: 10.1007/s13311-018-00686-0  0.388
2018 Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD. Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscular Disorders : Nmd. PMID 29759639 DOI: 10.1016/J.Nmd.2018.04.003  0.365
2018 Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, et al. Novel Variants in Individuals with-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Frontiers in Neurology. 9: 118. PMID 29556213 DOI: 10.3389/Fneur.2018.00118  0.442
2018 Gonorazky HD, Bönnemann CG, Dowling JJ. The genetics of congenital myopathies. Handbook of Clinical Neurology. 148: 549-564. PMID 29478600 DOI: 10.1016/B978-0-444-64076-5.00036-3  0.455
2018 Annoussamy M, Lilien C, Gidaro T, Chê V, Schara U, D'Amico A, Dowling J, Darras B, Daron A, Mayer M, Hernandez A, Vuillerot C, Fontaine S, deLattre C, Bellance R, et al. Congenital Myopathies (Cnm) Neuromuscular Disorders. 28. DOI: 10.1016/J.Nmd.2018.06.164  0.342
2017 Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S. Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. Plos One. 12: e0186645. PMID 29053735 DOI: 10.1371/Journal.Pone.0186645  0.305
2017 Gonorazky H, Naumenko S, Ohri K, Ramani A, Brudno M, Dowling J. Utilizing transcriptome sequencing to identify causes of neuromuscular disease Neuromuscular Disorders. 27: S193. DOI: 10.1016/J.Nmd.2017.06.362  0.302
2016 Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ. PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. PMID 27548528 DOI: 10.1172/Jci86841  0.769
2016 Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA. Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Journal of Neuropathology and Experimental Neurology. PMID 26823526 DOI: 10.1093/Jnen/Nlv020  0.368
2016 Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiology of Disease. PMID 26807988 DOI: 10.1016/J.Nbd.2016.01.018  0.307
2016 Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ. RNAseq analysis for the diagnosis of muscular dystrophy. Annals of Clinical and Translational Neurology. 3: 55-60. PMID 26783550 DOI: 10.1002/Acn3.267  0.376
2016 Sabha N, Volpatti J, Gonorazky H, Reifler A, Davidson A, Buj-Bello A, Feldman E, Dowling J. Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.449  0.716
2015 Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, et al. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. American Journal of Human Genetics. PMID 26686765 DOI: 10.1016/J.Ajhg.2015.11.012  0.323
2015 Smith SJ, Horstick EJ, Davidson AE, Dowling J. Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye. Journal of Visualized Experiments : Jove. PMID 26649573 DOI: 10.3791/53183  0.764
2015 Dowling JJ, Moore SA, Kalimo H, Minassian BA. X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathologica. 129: 383-90. PMID 25644398 DOI: 10.1007/S00401-015-1393-4  0.485
2015 Hutchinson S, Dowling J. MG-124 Zebrafish as an emerging model for human disease Journal of Medical Genetics. 52: A6.2-A6. DOI: 10.1136/Jmedgenet-2015-103577.16  0.369
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.512
2014 Cheng X, Zhang X, Gao Q, Ali Samie M, Azar M, Tsang WL, Dong L, Sahoo N, Li X, Zhuo Y, Garrity AG, Wang X, Ferrer M, Dowling J, Xu L, et al. The intracellular Ca²⁺ channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy. Nature Medicine. 20: 1187-92. PMID 25216637 DOI: 10.1038/Nm.3611  0.301
2014 Riazi S, Kraeva N, Muldoon SM, Dowling J, Ho C, Petre MA, Parness J, Dirksen RT, Rosenberg H. Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference. Canadian Journal of Anaesthesia = Journal Canadien D'AnesthéSie. 61: 1040-9. PMID 25189431 DOI: 10.1007/S12630-014-0227-5  0.319
2014 Dowling JJ, Lawlor MW, Dirksen RT. Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 11: 773-85. PMID 25168790 DOI: 10.1007/S13311-014-0300-3  0.432
2014 Waugh TA, Horstick E, Hur J, Jackson SW, Davidson AE, Li X, Dowling JJ. Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Human Molecular Genetics. 23: 4651-62. PMID 24760771 DOI: 10.1093/Hmg/Ddu185  0.748
2014 Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Conditional knockout of pik3c3 causes a murine muscular dystrophy. The American Journal of Pathology. 184: 1819-30. PMID 24726497 DOI: 10.1016/J.Ajpath.2014.02.012  0.806
2014 Raeker MÖ, Shavit JA, Dowling JJ, Michele DE, Russell MW. Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish. Frontiers in Physiology. 5: 14. PMID 24478725 DOI: 10.3389/Fphys.2014.00014  0.435
2014 North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders : Nmd. 24: 97-116. PMID 24456932 DOI: 10.1016/J.Nmd.2013.11.003  0.439
2014 Fero K, Bergeron SA, Horstick EJ, Codore H, Li GH, Ono F, Dowling JJ, Burgess HA. Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure. Disease Models & Mechanisms. 7: 289-98. PMID 24203884 DOI: 10.1242/Dmm.013235  0.781
2014 Gibbs EM, Davidson AE, Telfer WR, Feldman EL, Dowling JJ. The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. Disease Models & Mechanisms. 7: 157-61. PMID 24135484 DOI: 10.1242/Dmm.012286  0.458
2014 Todd PK, Ackall FY, Hur J, Sharma K, Paulson HL, Dowling JJ. Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. Disease Models & Mechanisms. 7: 143-55. PMID 24092878 DOI: 10.1242/Dmm.012427  0.359
2014 Amburgey K, Bailey A, Hwang J, Tarnopolsky M, Bönnemann C, Medne L, Mathews K, Collins J, Daube J, Wellman G, Callaghan B, Vajsar J, Yoon G, Cohn R, Clarke N, ... Dowling J, et al. G.P.48 Neuromuscular Disorders. 24: 809. DOI: 10.1016/J.Nmd.2014.06.062  0.386
2014 Chrestian N, Dowling J, Amburgey K, Moraes T, Cohn R, Hawkins C, Halliday W, McAdam L, Biggar D, Vajsar J. G.P.47 Neuromuscular Disorders. 24: 808-809. DOI: 10.1016/J.Nmd.2014.06.061  0.441
2014 Volpatti J, Burns A, Davidson A, Roy P, Dowling J. G.P.46 Neuromuscular Disorders. 24: 808. DOI: 10.1016/J.Nmd.2014.06.060  0.412
2014 Annoussamy M, Landy H, Ramsdell D, Nelken M, Muntoni F, Bönnemann C, Bharucha D, Dowling JJ, Amburgey K, Lilien C, Ollivier G, Laporte J, Biancalana V, Schara U, Cuisset JM, et al. G.P.39 Neuromuscular Disorders. 24: 806. DOI: 10.1016/J.Nmd.2014.06.053  0.348
2014 Kreissl M, Sandaradura S, Dowling J, Kostyukova A, Moroz N, Quinlan K, Lehtokari V, Ravenscroft G, Todd E, Ceyhan-Birsoy O, Gokhin D, Maluenda J, Lek M, Nolent F, Pappas C, et al. G.O.2 Neuromuscular Disorders. 24: 792-793. DOI: 10.1016/J.Nmd.2014.06.010  0.5
2013 Horstick EJ, Gibbs EM, Li X, Davidson AE, Dowling JJ. Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations. Journal of Visualized Experiments : Jove. e50259. PMID 24300240 DOI: 10.3791/50259  0.764
2013 Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ. Murine Fig4 is dispensable for muscle development but required for muscle function. Skeletal Muscle. 3: 21. PMID 24004519 DOI: 10.1186/2044-5040-3-21  0.806
2013 Dowling JJ. Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? Neurology. 81: 1189-90. PMID 23975873 DOI: 10.1212/Wnl.0B013E3182A6Cc43  0.475
2013 Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Diseases. 8: 117. PMID 23919265 DOI: 10.1186/1750-1172-8-117  0.384
2013 Sloboda DD, Claflin DR, Dowling JJ, Brooks SV. Force measurement during contraction to assess muscle function in zebrafish larvae. Journal of Visualized Experiments : Jove. PMID 23912162 DOI: 10.3791/50539  0.466
2013 Gibbs EM, Horstick EJ, Dowling JJ. Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. The Febs Journal. 280: 4187-97. PMID 23809187 DOI: 10.1111/Febs.12412  0.768
2013 Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature Communications. 4: 1952. PMID 23736855 DOI: 10.1038/Ncomms2952  0.794
2013 Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 80: 1584-9. PMID 23553484 DOI: 10.1212/Wnl.0B013E3182900380  0.456
2013 Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders : Nmd. 23: 432-6. PMID 23478172 DOI: 10.1016/J.Nmd.2013.02.009  0.399
2013 Gibbs EM, Davidson AE, Trickey-Glassman A, Backus C, Hong Y, Sakowski SA, Dowling JJ, Feldman EL. Two dynamin-2 genes are required for normal zebrafish development. Plos One. 8: e55888. PMID 23418470 DOI: 10.1371/Journal.Pone.0055888  0.363
2013 Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, ... ... Dowling JJ, et al. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain : a Journal of Neurology. 136: 508-21. PMID 23413262 DOI: 10.1093/Brain/Aws344  0.413
2013 Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of Molecular Medicine (Berlin, Germany). 91: 727-37. PMID 23338057 DOI: 10.1007/S00109-013-0994-4  0.517
2013 Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscular Disorders : Nmd. 23: 214-8. PMID 23273872 DOI: 10.1016/J.Nmd.2012.11.010  0.37
2013 Davidson A, Li X, Dowling J. P9.17 Function of CCDC78 in muscle development and muscle disease Neuromuscular Disorders. 23: 788-789. DOI: 10.1016/J.Nmd.2013.06.530  0.562
2013 Laitila J, Dowling J, Pelin K. P.9.3 Repair of mutant nebulin transcripts by exon exchange Neuromuscular Disorders. 23: 784. DOI: 10.1016/J.Nmd.2013.06.516  0.338
2013 Amburgey K, Julian D, Howell E, Britt M, Dowling J. P.4.7 The natural history of myotubular myopathy, summary of the first year of enrollment Neuromuscular Disorders. 23: 761. DOI: 10.1016/J.Nmd.2013.06.445  0.314
2013 Reifler A, Michele D, Archambeau A, Li X, Dowling J. P.4.1 PIP kinases, muscle development, and the pathogenesis of myotubular myopathy Neuromuscular Disorders. 23: 759-760. DOI: 10.1016/J.Nmd.2013.06.439  0.804
2013 Horstick E, Li X, Moore S, Dowling J. P.1.13 Autophagy and the pathogenesis of congenital muscular dystrophies Neuromuscular Disorders. 23: 745. DOI: 10.1016/J.Nmd.2013.06.397  0.759
2012 Sakowski SA, Lunn JS, Busta AS, Oh SS, Zamora-Berridi G, Palmer M, Rosenberg AA, Philip SG, Dowling JJ, Feldman EL. Neuromuscular effects of G93A-SOD1 expression in zebrafish. Molecular Neurodegeneration. 7: 44. PMID 22938571 DOI: 10.1186/1750-1326-7-44  0.306
2012 McKeever PE, Camelo-Piragua S, Dowling J. External and internal influences on muscle pathology. Archives of Pathology & Laboratory Medicine. 136: 927-34. PMID 22849742 DOI: 10.5858/Arpa.2012-0232-Cr  0.482
2012 Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American Journal of Human Genetics. 91: 365-71. PMID 22818856 DOI: 10.1016/J.Ajhg.2012.06.012  0.498
2012 Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease Models & Mechanisms. 5: 852-9. PMID 22645112 DOI: 10.1242/Dmm.009746  0.48
2012 Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, Marty I, Lunardi J, Brooks SV, Kuwada JY, Ferreiro A. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain : a Journal of Neurology. 135: 1115-27. PMID 22418739 DOI: 10.1093/Brain/Aws036  0.688
2012 Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, ... ... Dowling J, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Human Mutation. 33: 949-59. PMID 22396310 DOI: 10.1002/Humu.22067  0.394
2012 Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Current Neurology and Neuroscience Reports. 12: 165-74. PMID 22392505 DOI: 10.1007/S11910-012-0255-X  0.459
2012 Sakowski SA, Lunn JS, Busta AS, Palmer M, Dowling JJ, Feldman EL. A novel approach to study motor neurons from zebrafish embryos and larvae in culture. Journal of Neuroscience Methods. 205: 277-82. PMID 22285259 DOI: 10.1016/J.Jneumeth.2012.01.007  0.322
2012 Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Disease Models & Mechanisms. 5: 389-96. PMID 22159874 DOI: 10.1242/Dmm.008631  0.462
2012 Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Human Molecular Genetics. 21: 811-25. PMID 22068590 DOI: 10.1093/Hmg/Ddr512  0.436
2012 Hwang J, Amburgey K, Treves S, Zorzato F, Dowling J, Clarke N. C.P.2 In silico analysis of recessive RYR1 mutations identifies novel potential disease mechanisms Neuromuscular Disorders. 22: 841. DOI: 10.1016/J.Nmd.2012.06.130  0.383
2012 Davidson A, Majczenko K, Camelo-Piragua S, Li X, Joshi S, Xu J, Peng W, Li J, Burmeister M, Dowling J. C.O.4 Dominant mutation in CCDC78 in a unique congenital myopathy with central nuclei and atypical cores Neuromuscular Disorders. 22: 840. DOI: 10.1016/J.Nmd.2012.06.126  0.505
2012 Dowling J, Davidson A, Lopez M, Siddiqui F, Lunt P, Li J, Jungbluth H, Love S, Moore S. D.P.8 Expanding the clinical and genetic phenotype of TPM2-related myopathies Neuromuscular Disorders. 22: 810. DOI: 10.1016/J.Nmd.2012.06.028  0.403
2011 Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Plos Genetics. 7: e1002104. PMID 21655088 DOI: 10.1371/Journal.Pgen.1002104  0.333
2011 Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders : Nmd. 21: 420-7. PMID 21514828 DOI: 10.1016/J.Nmd.2011.03.006  0.452
2011 Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscular Disorders : Nmd. 21: 379-86. PMID 21440438 DOI: 10.1016/J.Nmd.2011.02.012  0.432
2011 Ribeiro I, Yuan L, Tanentzapf G, Dowling JJ, Kiger A. Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. Plos Genetics. 7: e1001295. PMID 21347281 DOI: 10.1371/Journal.Pgen.1001295  0.46
2011 Dowling J, Arbogast S, McEvoy A, Nelson D, Brooks S, Kuwada J, Bonnemann C, Ferreiro A. P4.54 Increased oxidative stress and successful antioxidant treatment in a vertebrate model of RYR1 related myopathy Neuromuscular Disorders. 21: 720-721. DOI: 10.1016/J.Nmd.2011.06.1019  0.599
2010 Ward AJ, Rimer M, Killian JM, Dowling JJ, Cooper TA. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Human Molecular Genetics. 19: 3614-22. PMID 20603324 DOI: 10.1093/Hmg/Ddq277  0.504
2010 Gibbs EM, Feldman EL, Dowling JJ. The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6: 819-20. PMID 20595810 DOI: 10.4161/Auto.6.6.12624  0.381
2010 Dowling JJ, Low SE, Busta AS, Feldman EL. Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Human Molecular Genetics. 19: 2668-81. PMID 20400459 DOI: 10.1093/Hmg/Ddq153  0.487
2010 Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Zebrafish models of collagen VI-related myopathies. Human Molecular Genetics. 19: 2433-44. PMID 20338942 DOI: 10.1093/Hmg/Ddq126  0.446
2010 Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders : Nmd. 20: 229-37. PMID 20227276 DOI: 10.1016/J.Nmd.2010.02.016  0.325
2010 Dowling J, Dulin-Smith A, Poulard K, Fries L, Buj-Bello A, Pierson C. P1.44 Neuromuscular junction abnormalities and myotubular myopathy Neuromuscular Disorders. 20: 613-614. DOI: 10.1016/J.Nmd.2010.07.059  0.306
2010 Dowling J, McEvoy A, Arbogast S, Kuwada J, Ferreiro A. P1.38 Oxidative stress and RYR1-related myopathies Neuromuscular Disorders. 20: 612. DOI: 10.1016/J.Nmd.2010.07.053  0.584
2009 Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. Plos Genetics. 5: e1000372. PMID 19197364 DOI: 10.1371/Journal.Pgen.1000372  0.723
2009 Dowling J, Busta A, Vreede A, Kuwada J, Wishart M, Feldman E. G.P.12.05 Myotubularins and the pathogenesis of centronuclear myopathies Neuromuscular Disorders. 19: 636-637. DOI: 10.1016/J.Nmd.2009.06.289  0.582
2009 Dowling J, Lillis S, Amburgey K, Leber S, Zhou H, Al-Sarraj S, Wraige E, Abbs S, Sewry C, Muntoni F, Jungbluth H. G.P.1.03 King-Denborough syndrome associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene Neuromuscular Disorders. 19: 556-557. DOI: 10.1016/J.Nmd.2009.06.045  0.444
2008 Dowling JJ, Vreede AP, Kim S, Golden J, Feldman EL. Kindlin-2 is required for myocyte elongation and is essential for myogenesis. Bmc Cell Biology. 9: 36. PMID 18611274 DOI: 10.1186/1471-2121-9-36  0.471
2008 Dowling JJ, Gibbs EM, Feldman EL. Membrane traffic and muscle: lessons from human disease. Traffic (Copenhagen, Denmark). 9: 1035-43. PMID 18266915 DOI: 10.1111/J.1600-0854.2008.00716.X  0.47
2008 Dowling JJ, Gibbs E, Russell M, Goldman D, Minarcik J, Golden JA, Feldman EL. Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function. Circulation Research. 102: 423-31. PMID 18174465 DOI: 10.1161/Circresaha.107.161489  0.54
2007 Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 448: 68-72. PMID 17572665 DOI: 10.1038/Nature05876  0.351
2007 Gibbs EM, Dowling J, Goldman D, Feldman EL. Mig-2 is required for normal myogenesis in zebrafish Developmental Biology. 306: 424. DOI: 10.1016/J.Ydbio.2007.03.665  0.442
2007 Goldman D, Gibbs EM, Feldman EL, Dowling J. WITHDRAWN: Mig-2 is required for normal myogenesis in zebrafish Developmental Biology. DOI: 10.1016/J.Ydbio.2007.03.320  0.442
2002 Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Human Mutation. 19: 4-15. PMID 11754098 DOI: 10.1002/Humu.10028  0.348
1997 Dowling J, Yang Y, Wollmann R, Reichardt LF, Fuchs E. Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice. Developmental Biology. 187: 131-42. PMID 9242412 DOI: 10.1006/Dbio.1997.8567  0.33
1990 Dowling JJ, Kennedy SR. The quantitative assessment of EMG crosstalk in human soleus and gastrocnemeius muscles Journal of Biomechanics. 23: 728. DOI: 10.1016/0021-9290(90)90234-T  0.32
Low-probability matches (unlikely to be authored by this person)
2015 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/Jci80057  0.3
2001 Dowling JJ, Hack AA. Introduction to molecular and clinical genetics Best Practice and Research: Clinical Anaesthesiology. 15: 155-168. DOI: 10.1053/Bean.2001.0149  0.3
2019 Qiu B, Ruston J, Granzier H, Justice MJ, Dowling JJ. Failure to identify modifiers of -related nemaline myopathy in two pre-clinical models of the disease. Biology Open. 8. PMID 31530540 DOI: 10.1242/Bio.044867  0.299
2017 Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, ... ... Dowling JJ, et al. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics. PMID 29097605 DOI: 10.1136/Jmedgenet-2017-104946  0.296
2017 Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, ... ... Dowling JJ, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771251 DOI: 10.1038/Gim.2017.119  0.294
2014 Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology. 83: 2175-82. PMID 25361784 DOI: 10.1212/Wnl.0000000000001053  0.293
2011 Waugh T, Dowling J. O.3 Identification of a novel therapeutic pathway for Duchenne muscular dystrophy through utilization of the zebrafish model sapje Neuromuscular Disorders. 21: 641. DOI: 10.1016/J.Nmd.2011.06.759  0.292
2017 Dowling J, Sabha N, Maani N, Volpatti J, Gonorazky H, Rezai K, Groom L, Dirksen R. P.248 - Myotubular myopathy and excitation contraction coupling: From pathomechanism(s) to therapy Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.278  0.289
1995 Guo L, Degenstein L, Dowling J, Yu QC, Wollmann R, Perman B, Fuchs E. Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration Cell. 81: 233-243. PMID 7736575 DOI: 10.1016/0092-8674(95)90333-X  0.287
2010 Gibbs E, Busta A, Feldman E, Dowling J. P1.36 Zebrafish models of dynamin 2 – related centronuclear myopathy Neuromuscular Disorders. 20: 611. DOI: 10.1016/J.Nmd.2010.07.051  0.287
2021 Maani N, Karolczak S, Dowling JJ. Genetic therapy for congenital myopathies. Current Opinion in Neurology. PMID 34267051 DOI: 10.1097/WCO.0000000000000978  0.287
2011 Pluskota E, Dowling JJ, Gordon N, Golden JA, Szpak D, West XZ, Nestor C, Ma YQ, Bialkowska K, Byzova T, Plow EF. The integrin coactivator kindlin-2 plays a critical role in angiogenesis in mice and zebrafish. Blood. 117: 4978-87. PMID 21378273 DOI: 10.1182/Blood-2010-11-321182  0.287
2020 Wagner KR, De Luca A, Caizergues D, Dowling J, Goemans N, Gordish-Dressman H, Grounds MD, Kelly M, Mayhew A, McNally EM, Zoetis T, Lee J, Turner C, Wells DJ, Csimma C, et al. A decade of optimizing drug development for rare neuromuscular disorders through TACT. Nature Reviews. Drug Discovery. 19: 1-2. PMID 31907422 DOI: 10.1038/D41573-019-00199-1  0.287
1993 Lynch CS, Dowling JJ. Accounting for elastic recovery in stretch-shortening movements: A muscle modelling perspective Journal of Biomechanics. 26: 311. DOI: 10.1016/0021-9290(93)90444-J  0.287
2010 Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Annals of Neurology. 68: 717-26. PMID 20839240 DOI: 10.1002/ana.22119  0.285
2017 Dabaj I, Yaou RB, Bönnemann C, Nascimento A, Rutkowski A, Torricelli RE, Muntoni F, Lagrue E, Dowling J, Bushby K, Casteglioni C, Kleinsteuber K, Lorenzo M, Ishiyama A, Sejersen T, et al. P.137 - Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.167  0.283
2009 Blankinship M, Busta A, Feldman E, Dowling J. EM.P.5.05 Zebrafish models of collagen VI myopathies Neuromuscular Disorders. 19: 631. DOI: 10.1016/J.Nmd.2009.06.272  0.28
2017 Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, ... ... Dowling JJ, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine. 9. PMID 28424332 DOI: 10.1126/scitranslmed.aal5209  0.28
2008 Dowling J, Majczenko K, Blaivas M, Burmeister M. G.P.13.13 Identification and characterization of a novel congenital myopathy Neuromuscular Disorders. 18: 811. DOI: 10.1016/J.Nmd.2008.06.298  0.279
2012 Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Human Molecular Genetics. 21: 3525-34. PMID 22581779 DOI: 10.1093/Hmg/Dds179  0.278
2017 Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. Neurology. Genetics. 3: e182. PMID 28852708 DOI: 10.1212/Nxg.0000000000000182  0.277
2021 Anderson ND, Babichev Y, Fuligni F, Comitani F, Layeghifard M, Venier RE, Dentro SC, Maheshwari A, Guram S, Wunker C, Thompson JD, Yuki KE, Hou H, Zatzman M, Light N, ... ... Dowling JJ, et al. Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival. Nature Communications. 12: 4496. PMID 34301934 DOI: 10.1038/s41467-021-24677-6  0.276
2019 Onofre-Oliveira P, Brennan S, Volpatti J, Garcia-Castaneda M, Michelucci A, Groom L, Sabha N, Dirksen R, Dowling J. P.239Therapy development for RYR1 related myopathies Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.353  0.276
2017 Smith SJ, Wang JC, Gupta VA, Dowling JJ. A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. Plos One. 12: e0172648. PMID 28241031 DOI: 10.1371/journal.pone.0172648  0.275
1994 Dowling J, Ljucovic P, Andrews D. Predicting maximal muscle force via the interpolated twitch Journal of Biomechanics. 27: 640. DOI: 10.1016/0021-9290(94)90906-7  0.268
2017 Litman RS, Griggs SM, Dowling JJ, Riazi S. Malignant Hyperthermia Susceptibility and Related Diseases. Anesthesiology. PMID 28902673 DOI: 10.1097/Aln.0000000000001877  0.265
1994 Dowling JJ, Konert E, Ljucovic P, Andrews DM. Are humans able to voluntarily elicit maximum muscle force? Neuroscience Letters. 179: 25-8. PMID 7845617  0.264
1996 Yang Y, Dowling J, Yu QC, Kouklis P, Cleveland DW, Fuchs E. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell. 86: 655-65. PMID 8752219 DOI: 10.1016/S0092-8674(00)80138-5  0.263
2024 Karuppasamy M, English KG, Henry CA, Manzini MC, Parant JM, Wright MA, Ruparelia AA, Currie PD, Gupta VA, Dowling JJ, Maves L, Alexander MS. Standardization of zebrafish drug testing parameters for muscle diseases. Disease Models & Mechanisms. 17. PMID 38235578 DOI: 10.1242/dmm.050339  0.263
2017 Amburgey K, Hewson S, Hum C, Glueck M, Sultanum N, Girdea M, Brudno M, Bönnemann C, Dastgir J, Amin R, Mayer O, Constantinescu A, Syed F, Tran T, Jain M, ... ... Dowling J, et al. P.280 - The natural history of nemaline myopathy Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.320  0.261
2020 van Putten M, Hmeljak J, Aartsma-Rus A, Dowling JJ. Moving neuromuscular disorders research forward: from novel models to clinical studies. Disease Models & Mechanisms. 13. PMID 32224497 DOI: 10.1242/dmm.044370  0.261
2011 Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Annals of Neurology. 70: 662-5. PMID 22028225 DOI: 10.1002/Ana.22510  0.261
2012 Huismann DJ, Sheldon JP, Yashar BM, Amburgey K, Dowling JJ, Petty EM. Quality of life and autonomy in emerging adults with early-onset neuromuscular disorders. Journal of Genetic Counseling. 21: 713-25. PMID 22367485 DOI: 10.1007/S10897-012-9492-Z  0.26
2010 Pluskota E, Dowling JJ, Gordon N, Golden JA, Szpak D, Zhang X, Nestor C, Ma Y, Bialkowska K, Byzova T, Plow EF. The Integrin Co-Activator Kindlin-2 Plays a Critical Role In Angiogenesis and Blood Vessel Integrity Blood. 116: 4-4. DOI: 10.1182/Blood.V116.21.4.4  0.258
2012 Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, ... ... Dowling JJ, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 8: 445-544. PMID 22966490 DOI: 10.4161/Auto.19496  0.257
2020 Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, ... ... Dowling JJ, et al. Randomized controlled trial of -acetylcysteine therapy for -related myopathies. Neurology. PMID 31941795 DOI: 10.1212/Wnl.0000000000008872  0.253
2016 Gonorazky H, Maani N, Khattak S, Ivakine Z, Cohn R, Dowling J. Gene editing using CRISPR/Cas9 in neuromuscular disorders Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.152  0.253
2020 Volpatti JR, Endo Y, Knox J, Groom L, Brennan S, Noche R, Zuercher WJ, Roy P, Dirksen RT, Dowling JJ. Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline. Elife. 9. PMID 32223895 DOI: 10.7554/Elife.52946  0.253
1997 Dowling JJ. The use of electromyography for the noninvasive prediction of muscle forces. Current issues. Sports Medicine (Auckland, N.Z.). 24: 82-96. PMID 9291550 DOI: 10.2165/00007256-199724020-00002  0.252
1997 Fuchs E, Dowling J, Segre J, Lo SH, Yu QC. Integrators of epidermal growth and differentiation: Distinct functions for β1 and β4 integrins Current Opinion in Genetics and Development. 7: 672-682. PMID 9388785 DOI: 10.1016/S0959-437X(97)80016-0  0.25
2022 Endo Y, Groom L, Celik A, Kraeva N, Lee CS, Jung SY, Gardner L, Shaw MA, Hamilton SL, Hopkins PM, Dirksen RT, Riazi S, Dowling JJ. Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nature Communications. 13: 3403. PMID 35697689 DOI: 10.1038/s41467-022-31088-8  0.248
2017 Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. American Journal of Medical Genetics. Part A. PMID 28889642 DOI: 10.1002/ajmg.a.38418  0.248
2012 Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, et al. Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology. 27: 363-82. PMID 22431881 DOI: 10.1177/0883073812436605  0.247
2023 Karolczak S, Deshwar AR, Aristegui E, Kamath BM, Lawlor MW, Andreoletti G, Volpatti JR, Ellis JL, Yin C, Dowling JJ. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. The Journal of Clinical Investigation. PMID 37490339 DOI: 10.1172/JCI166275  0.245
2023 Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, et al. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. The Lancet. Neurology. 22: 1125-1139. PMID 37977713 DOI: 10.1016/S1474-4422(23)00313-7  0.244
2023 Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, ... ... Dowling JJ, et al. Monoallelic Loss of Function BMP2 Variants Result in BMP2-Related Skeletal Dysplasia Spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100863. PMID 37125634 DOI: 10.1016/j.gim.2023.100863  0.24
2019 Gonorazky H, Sabha N, Granzier H, Dowling J. P.287Restoring expression of nebulin using CRISPR/CAS9 Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.401  0.234
1992 Dowling JJ, Cardone N. Relative cross-sectional areas of upper and lower extremity muscles in humans Journal of Biomechanics. 25: 688. DOI: 10.1016/0021-9290(92)90218-P  0.233
1992 Dowling JJ. The effect of muscle mechanics on human movement outcomes as revealed by computer simulation Human Movement Science. 11: 273-297. DOI: 10.1016/0167-9457(92)90001-R  0.231
2019 Dowling J, Shieh P, Kuntz N, Bonnemann C, Muller-Felber W, Lawlor M, Servais L, Smith B, Noursalehi M, Rico S, Prasad S. O.39ASPIRO phase 1/2 gene therapy trial in X-linked motubular myopathy (XLMTM): update on preliminary safety and efficacy findings Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.593  0.23
2022 Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, ... ... Dowling JJ, et al. X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica. PMID 35844027 DOI: 10.1007/s00401-022-02468-7  0.229
1996 Dowling J, Yu QC, Fuchs E. β4 Integrin is required for hemidesmosome formation, cell adhesion and cell survival Journal of Cell Biology. 134: 559-572. PMID 8707838 DOI: 10.1083/Jcb.134.2.559  0.228
2019 Volpatti JR, Al-Maawali A, Smith L, Al-Hashim A, Brill JA, Dowling JJ. The expanding spectrum of neurological disorders of phosphoinositide metabolism. Disease Models & Mechanisms. 12. PMID 31413155 DOI: 10.1242/dmm.038174  0.227
2019 Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, ... ... Dowling JJ, et al. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. American Journal of Human Genetics. PMID 30827497 DOI: 10.1016/J.Ajhg.2019.01.012  0.227
2012 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 22: 453-62. PMID 22226685 DOI: 10.1016/J.Nmd.2011.12.003  0.225
2013 Pluskota E, Ma Y, Bledzka KM, Bialkowska K, Soloviev DA, Szpak D, Podrez EA, Fox PL, Hazen SL, Dowling JJ, Ma YQ, Plow EF. Kindlin-2 regulates hemostasis by controlling endothelial cell-surface expression of ADP/AMP catabolic enzymes via a clathrin-dependent mechanism. Blood. 122: 2491-9. PMID 23896409 DOI: 10.1182/Blood-2013-04-497669  0.224
2020 Merico D, Spickett C, O'Hara M, Kakaradov B, Deshwar AG, Fradkin P, Gandhi S, Gao J, Grant S, Kron K, Schmitges FW, Shalev Z, Sun M, Verby M, Cahill M, ... Dowling JJ, et al. ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping. Npj Genomic Medicine. 5: 16. PMID 33579975 DOI: 10.1038/s41525-020-0123-6  0.224
2022 Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, et al. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases. PMID 35694931 DOI: 10.3233/JND-210781  0.222
2015 Gonorazky H, Yoon G, Sabha N, Tsuchiya E, Amburgey K, Marshall C, Dowling J. Filling in the gap between exome and genome: mRNA analysis as a clinical diagnosis tool Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.406  0.221
2019 Servais L, Shieh P, Dowling J, Kuntz N, Müller-Felber W, Smith B, Bönnemann C, Muntoni F, Bilder D, Duong T, Graham R, Jain M, Lawlor M, MacBean V, Noursalehi M, et al. P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM) Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.161  0.22
2016 Kinnett K, Dowling JJ, Mendell JR. "The Certified Duchenne Care Center Program". Neuromuscular Disorders : Nmd. PMID 27856129 DOI: 10.1016/J.Nmd.2016.09.007  0.217
1994 Dowling JJ, Cardone N. Relative cross-sectional areas of upper and lower extremity muscles and implications for force prediction. International Journal of Sports Medicine. 15: 453-9. PMID 7890457 DOI: 10.1055/s-2007-1021087  0.214
1999 Frei R, Dowling J, Carenini S, Fuchs E, Martini R. Myelin formation by Schwann cells in the absence of integrin Glia. 27: 269-274. PMID 10457373 DOI: 10.1002/(Sici)1098-1136(199909)27:3<269::Aid-Glia8>3.0.Co;2-2  0.214
2006 Wrbaskić N, Dowling JJ. Ballistic muscle mechanisms determined using an EMG-driven model. Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. 16: 32-41. PMID 16219477 DOI: 10.1016/j.jelekin.2004.09.005  0.21
2018 Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ. Tamoxifen therapy in a murine model of myotubular myopathy. Nature Communications. 9: 4849. PMID 30451841 DOI: 10.1038/S41467-018-07057-5  0.209
1996 Unnithan VB, Dowling JJ, Frost G, Volpe Ayub B, Bar-Or O. Cocontraction and phasic activity during GAIT in children with cerebral palsy. Electromyography and Clinical Neurophysiology. 36: 487-94. PMID 8985677  0.204
2023 Sondheimer N, Aleman A, Cameron J, Gonorazky H, Sabha N, Oliveira P, Amburgey K, Wahedi A, Wang D, Shy M, Dowling JJ. Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy. Hgg Advances. 4: 100182. PMID 36845668 DOI: 10.1016/j.xhgg.2023.100182  0.203
2022 Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, ... ... Dowling J, et al. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36083289 DOI: 10.1016/j.gim.2022.07.024  0.198
2018 Gonorazky H, Naumenko S, Kao D, Mashouri P, Ramani A, Mathews K, Tarnopolsky M, Moore S, Brudno M, Dowling J. Next Generation Sequencing And Experimental Myology Neuromuscular Disorders. 28. DOI: 10.1016/J.Nmd.2018.06.426  0.196
2017 Kraeva N, Sapa A, Dowling JJ, Riazi S. Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie. PMID 28326467 DOI: 10.1007/s12630-017-0865-5  0.19
2015 Kinnett K, Mendel J, Dowling J, Wagner E, Cripe L, Apkon S, Shell R, Finkel R, Nelson S, Matthews D, Porter J, Furlong P. Addressing discrepancies in care with the certified Duchenne care center program Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.059  0.184
2019 Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk R, Snapper SB, Klein C, Thiagarajah JR, et al. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency. Gastroenterology. PMID 31743734 DOI: 10.1053/j.gastro.2019.11.019  0.182
2017 Gonorazky HD, Amburgey K, Yoon G, Vajsar J, Widjaja E, Dowling JJ. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle & Nerve. PMID 28667691 DOI: 10.1002/mus.25737  0.178
2020 Shieh PB, Bönnemann CG, Müller-Felber W, Blaschek A, Dowling J, Kuntz NL, Seferian AM. Letter to the Editor. Human Gene Therapy. PMID 32777938 DOI: 10.1089/Hum.2020.217  0.177
2016 Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscular Disorders : Nmd. PMID 26951757 DOI: 10.1016/J.Nmd.2016.02.007  0.173
2023 Simonian R, Pannia E, Hammoud R, Noche RR, Cui X, Kranenburg E, Kubant R, Ashcraft P, Wasek B, Bottiglieri T, Dowling JJ, Anderson GH. Methylenetetrahydrofolate reductase deficiency and high dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish. Human Molecular Genetics. PMID 36637428 DOI: 10.1093/hmg/ddac308  0.168
2022 Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics. 109: 601-617. PMID 35395208 DOI: 10.1016/j.ajhg.2022.03.002  0.166
2003 Frost G, Bar-Or O, Dowling J, Dyson K. Explaining differences in the metabolic cost and efficiency of treadmill locomotion in children. Journal of Sports Sciences. 20: 451-61. PMID 12137175 DOI: 10.1080/02640410252925125  0.154
2019 O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, ... ... Dowling JJ, et al. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics. PMID 31079897 DOI: 10.1016/J.Ajhg.2019.03.021  0.152
2022 Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, et al. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical Genetics. PMID 36353900 DOI: 10.1111/cge.14262  0.147
2022 Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Lango Allen H, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, ... ... Dowling JJ, et al. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain : a Journal of Neurology. PMID 36477332 DOI: 10.1093/brain/awac461  0.147
2021 Menon D, Gonorazky HD, Dowling JJ, McAdam L, Ansari T, Vajsar J, Yoon G, Bril V, Katzberg H. Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care. Neuromuscular Disorders : Nmd. 32: 206-212. PMID 35216880 DOI: 10.1016/j.nmd.2021.12.002  0.145
2022 Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, et al. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. Jama Neurology. PMID 35254387 DOI: 10.1001/jamaneurol.2022.0067  0.137
2022 Qashqari H, McNiven V, Gonorazky H, Mendoza-Londono R, Hassan A, Kulkarni T, Amburgey K, Dowling JJ. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications. Neuromuscular Disorders : Nmd. PMID 36210261 DOI: 10.1016/j.nmd.2022.09.007  0.136
2020 Hodgkinson V, Oskoui M, Lounsberry J, M'Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan H, Simard L, Vajsar J, Brais B, Chapman K, Chrestian N, Crone M, Dobrowolski P, ... ... Dowling JJ, et al. A national spinal muscular atrophy registry for real world evidence. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-18. PMID 32493524 DOI: 10.1017/Cjn.2020.111  0.129
2023 Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, ... ... Dowling JJ, et al. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101012. PMID 37924259 DOI: 10.1016/j.gim.2023.101012  0.126
2021 Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, ... ... Dowling JJ, et al. A Cross-Sectional Study of Nemaline Myopathy. Neurology. PMID 33397769 DOI: 10.1212/WNL.0000000000011458  0.124
2018 Remtulla S, Zapata-Aldana E, Gonorazky H, Boyd J, Scholtes C, Hicks R, Leung A, Dowling J, Vajsar J, McMillan H, Tarnopolsky M, Campbell C. B.07 Review of patients with Spinal Muscular Atrophy treated with Nusinersen in Ontario Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques. 45: S13-S13. DOI: 10.1017/Cjn.2018.95  0.121
2018 Vandersmissen I, Biancalana V, Servais L, Dowling JJ, Vander Stichele G, Van Rooijen S, Thielemans L. An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. Neuromuscular Disorders : Nmd. 28: 766-777. PMID 30122513 DOI: 10.1016/j.nmd.2018.06.012  0.118
2023 Bullivant J, Sen A, Page J, Graham RJ, Jungbluth H, Schara-Schmidt U, Lynch O, Bönnemann C, Hollander AD, Lennox A, Moat D, Saegert C, Amburgey K, Buj-Bello A, Dowling JJ, et al. The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research. Neuromuscular Disorders : Nmd. PMID 38061948 DOI: 10.1016/j.nmd.2023.10.014  0.116
2023 Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, ... ... Dowling JJ, et al. Trio RNA sequencing in a cohort of medically complex children. American Journal of Human Genetics. PMID 36990084 DOI: 10.1016/j.ajhg.2023.03.006  0.11
2012 Frost G, Dowling J, Dyson K, Bar-Or O. Cocontraction in three age groups of children during treadmill locomotion. Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. 7: 179-86. PMID 20719703 DOI: 10.1016/S1050-6411(97)84626-3  0.106
2003 Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. European Journal of Human Genetics : Ejhg. 11: 527-34. PMID 12825074 DOI: 10.1038/Sj.Ejhg.5200995  0.103
2014 Dowling JJ, North KN, Goebel HH, Beggs AH. Congenital and Other Structural Myopathies Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 499-537. DOI: 10.1016/B978-0-12-417044-5.00028-7  0.103
2016 Dowling JJ. Eteplirsen therapy for Duchenne muscular dystrophy: skipping to the front of the line. Nature Reviews. Neurology. PMID 27857122 DOI: 10.1038/nrneurol.2016.180  0.103
2021 Dowling JJ, Riazi S, Litman RS. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses. A&a Practice. 15: e01377. PMID 33512901 DOI: 10.1213/XAA.0000000000001377  0.103
2013 Kopp AD, Howell B, Hornyak JE, Dowling J. Case Reports of Percussion Effects on Contractures in Patients with Duchenne Muscular Dystrophy Pm&R. 5: S181-S181. DOI: 10.1016/j.pmrj.2013.08.143  0.102
2021 Oskoui M, Gonorazky H, McMillan HJ, Dowling JJ, Amin R, Gagnon C, Selby K. Guidance on gene replacement therapy in Spinal Muscular Atrophy: a Canadian perspective. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-11. PMID 34082851 DOI: 10.1017/cjn.2021.125  0.1
1995 Sahin M, Dowling JJ, Hockfield S. Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain. The Journal of Comparative Neurology. 351: 617-31. PMID 7721987 DOI: 10.1002/Cne.903510410  0.098
2020 Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, ... ... Dowling JJ, et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31949314 DOI: 10.1038/s41436-019-0747-z  0.098
2022 Harrington S, Knox JJ, Burns AR, Choo KL, Au A, Kitner M, Haeberli C, Pyche J, D'Amata C, Kim YH, Volpatti JR, Guiliani M, Snider J, Wong V, Palmeira BM, ... ... Dowling JJ, et al. Egg-laying and locomotory screens with C. elegans yield a nematode-selective small molecule stimulator of neurotransmitter release. Communications Biology. 5: 865. PMID 36002479 DOI: 10.1038/s42003-022-03819-6  0.096
1996 Unnithan VB, Dowling JJ, Frost G, Bar-Or O. Role of cocontraction in the O2 cost of walking in children with cerebral palsy. Medicine and Science in Sports and Exercise. 28: 1498-504. PMID 8970144  0.095
1997 Fuchs E, Yang Y, Dowling J, Lo S, Yu Q, Allen E, Degenstein L, Lee E. Genetic disorders of the cytoskeleton Faseb Journal. 11: A1005.  0.095
2020 Djordjevic D, Tsuchiya E, Fitzpatrick M, Sondheimer N, Dowling JJ. Utility of metabolic screening in neurological presentations of infancy. Annals of Clinical and Translational Neurology. PMID 32495504 DOI: 10.1002/Acn3.51076  0.094
2016 Hanwell D, Hutchinson SA, Collymore C, Bruce AE, Louis R, Ghalami A, Allison WT, Ekker M, Eames BF, Childs S, Kurrasch DM, Gerlai R, Thiele T, Scott I, Ciruna B, ... Dowling JJ, et al. Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. Zebrafish. PMID 27248438 DOI: 10.1089/zeb.2016.1286  0.092
1991 Dowling JJ, Patrick V, Fujita JT. Psychiatry and molecular genetics: a paradigm shift. Hawaii Medical Journal. 50: 416-7, 420. PMID 1769818  0.091
2020 Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, ... ... Dowling JJ, et al. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32047287 DOI: 10.1038/s41436-020-0760-2  0.091
2006 Durkin JL, Dowling JJ. Body segment parameter estimation of the human lower leg using an elliptical model with validation from DEXA. Annals of Biomedical Engineering. 34: 1483-93. PMID 16847589 DOI: 10.1007/s10439-006-9088-6  0.089
2009 Wrbaskić N, Dowling JJ. The relationship between strength, power and ballistic performance. Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. 19: e12-22. PMID 18035556 DOI: 10.1016/j.jelekin.2007.07.011  0.087
2019 Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, ... ... Dowling JJ, et al. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. American Journal of Human Genetics. 104: 1007. PMID 31051109 DOI: 10.1016/j.ajhg.2019.04.004  0.083
2022 Dowling JJ. CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy. Gene Therapy. PMID 35194186 DOI: 10.1038/s41434-022-00323-8  0.081
1992 Portfors CV, Dowling JJ. Assessment of the double differential technique at identifying and eliminating EMG crosstalk Journal of Biomechanics. 25: 673. DOI: 10.1016/0021-9290(92)90174-Y  0.081
2020 McMillan HJ, Kernohan KD, Yeh E, Amburgey K, Boyd J, Campbell C, Dowling J, Gonorazky H, Marcadier J, Tarnopolsky M, Vajsar J, Mackenzie A, Chakraborty P. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-24. PMID 33059774 DOI: 10.1017/cjn.2020.229  0.08
2015 Masterson S, Vellinga A, Wright P, Dowling J, Bury G, Murphy AW. General practitioner contribution to out-of-hospital cardiac arrest outcome: A national registry study. The European Journal of General Practice. 21: 131-7. PMID 25387228 DOI: 10.3109/13814788.2014.962509  0.078
2016 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscular Disorders : Nmd. PMID 27377473 DOI: 10.1016/j.nmd.2016.06.001  0.078
1995 Leedham JS, Dowling JJ. Force-length, torque-angle and EMG-joint angle relationships of the human in vivo biceps brachii. European Journal of Applied Physiology and Occupational Physiology. 70: 421-6. PMID 7671877  0.075
2012 Trotter R, Dowling J, Hornyak JE. Poster 449 Ketotic Hypoglycemia in RYR-1 Central Core Myopathy: A Case Report Pm&R. 4: S344-S344. DOI: 10.1016/j.pmrj.2012.09.1057  0.075
2005 Durkin JL, Dowling JJ, Scholtes L. Using mass distribution information to model the human thigh for body segment parameter estimation. Journal of Biomechanical Engineering. 127: 455-64. PMID 16060352  0.075
2014 Ford SL, Polkinghorne KR, Longano A, Dowling J, Dayan S, Kerr PG, Holdsworth SR, Kitching AR, Summers SA. Histopathologic and clinical predictors of kidney outcomes in ANCA-associated vasculitis. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 63: 227-35. PMID 24183110 DOI: 10.1053/j.ajkd.2013.08.025  0.074
2021 Kernohan KD, McMillan HJ, Yeh E, Lacaria M, Kowalski M, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA, Vajsar J, Mackenzie A, Chakraborty P. Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-7. PMID 34620260 DOI: 10.1017/cjn.2021.231  0.073
1995 Frost G, Bar-Or O, Dowling J, White C. Habituation of Children to Treadmill Walking and Running: Metabolic and Kinematic Criteria Pediatric Exercise Science. 7: 162-175. DOI: 10.1123/pes.7.2.162  0.072
2017 Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ. A natural history study of X-linked myotubular myopathy. Neurology. PMID 28842446 DOI: 10.1212/Wnl.0000000000004415  0.07
2023 Burns AR, Baker RJ, Kitner M, Knox J, Cooke B, Volpatti JR, Vaidya AS, Puumala E, Palmeira BM, Redman EM, Snider J, Marwah S, Chung SW, MacDonald MH, Tiefenbach J, ... ... Dowling JJ, et al. Selective control of parasitic nematodes using bioactivated nematicides. Nature. PMID 37225985 DOI: 10.1038/s41586-023-06105-5  0.07
2006 Benoit DL, Dowling JJ. In vivo assessment of elbow flexor work and activation during stretch-shortening cycle tasks. Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. 16: 352-64. PMID 16263310 DOI: 10.1016/j.jelekin.2004.07.006  0.069
2015 Sun J, Barnes M, Dowling J, Menk F, Stanwell P, Greer PB. An open source automatic quality assurance (OSAQA) tool for the ACR MRI phantom. Australasian Physical & Engineering Sciences in Medicine / Supported by the Australasian College of Physical Scientists in Medicine and the Australasian Association of Physical Sciences in Medicine. 38: 39-46. PMID 25412885 DOI: 10.1007/s13246-014-0311-8  0.069
2014 Beeman SC, Cullen-McEwen LA, Puelles VG, Zhang M, Wu T, Baldelomar EJ, Dowling J, Charlton JR, Forbes MS, Ng A, Wu QZ, Armitage JA, Egan GF, Bertram JF, Bennett KM. MRI-based glomerular morphology and pathology in whole human kidneys. American Journal of Physiology. Renal Physiology. 306: F1381-90. PMID 24647716 DOI: 10.1152/Ajprenal.00092.2014  0.069
2014 Hakimzadeh K, Peiro Sajjad H, Dowling J. Scaling HDFS with a strongly consistent relational model for metadata Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 8460: 38-51. DOI: 10.1007/978-3-662-43352-2_4  0.066
1989 Dowling JJ, Patrick V. Delirium with dystonia: a variant of neuroleptic malignant syndrome? The American Journal of Psychiatry. 146: 276-7. PMID 2563212  0.065
2000 Andrews DM, Dowling JJ. Mechanical Modeling of Tibial Axial Accelerations Following Impulsive Heel Impact Journal of Applied Biomechanics. 16: 276-288. DOI: 10.1123/jab.16.3.276  0.065
1994 Szele FG, Dowling JJ, Gonzales C, Theveniau M, Rougon G, Chesselet MF. Pattern of expression of highly polysialylated neural cell adhesion molecule in the developing and adult rat striatum. Neuroscience. 60: 133-44. PMID 8052407 DOI: 10.1016/0306-4522(94)90209-7  0.06
2015 Liam Finn WD, Dowling J. Modelling effects of pile diameter Canadian Geotechnical Journal. 53: 173-178. DOI: 10.1139/cgj-2015-0119  0.059
2015 Ghose S, Holloway L, Lim K, Chan P, Veera J, Vinod SK, Liney G, Greer PB, Dowling J. A review of segmentation and deformable registration methods applied to adaptive cervical cancer radiation therapy treatment planning. Artificial Intelligence in Medicine. 64: 75-87. PMID 26025124 DOI: 10.1016/j.artmed.2015.04.006  0.057
2006 Dowling JJ, Durkin JL, Andrews DM. The uncertainty of the pendulum method for the determination of the moment of inertia. Medical Engineering & Physics. 28: 837-41. PMID 16442329 DOI: 10.1016/j.medengphy.2005.11.007  0.056
2015 Allen AP, Naughton M, Dowling J, Walsh A, Ismail F, Shorten G, Scott L, McLoughlin DM, Cryan JF, Dinan TG, Clarke G. Serum BDNF as a peripheral biomarker of treatment-resistant depression and the rapid antidepressant response: A comparison of ketamine and ECT. Journal of Affective Disorders. 186: 306-311. PMID 26275358 DOI: 10.1016/J.Jad.2015.06.033  0.055
1993 Dowling JJ. Electrical and mechanical equivalence of human elbow flexors Journal of Biomechanics. 26: 311. DOI: 10.1016/0021-9290(93)90445-K  0.054
2003 Durkin JL, Dowling JJ. Analysis of body segment parameter differences between four human populations and the estimation errors of four popular mathematical models. Journal of Biomechanical Engineering. 125: 515-22. PMID 12968576 DOI: 10.1115/1.1590359  0.053
2013 Bury G, Headon M, Egan M, Dowling J. Cardiac arrest management in general practice in Ireland: a 5-year cross-sectional study. Bmj Open. 3. PMID 23676797 DOI: 10.1136/bmjopen-2013-002563  0.053
1993 Dowling JJ, Vamos L. Identification of Kinetic and Temporal Factors Related to Vertical Jump Performance Journal of Applied Biomechanics. 9: 95-110. DOI: 10.1123/jab.9.2.95  0.051
2014 Kelly JW, Shen S, Pan Y, Dowling J, McLean CA. Postexcisional melanocytic regrowth extending beyond the initial scar: a novel clinical sign of melanoma. The British Journal of Dermatology. 170: 961-4. PMID 24328996 DOI: 10.1111/Bjd.12780  0.05
2014 Litjens G, Toth R, van de Ven W, Hoeks C, Kerkstra S, van Ginneken B, Vincent G, Guillard G, Birbeck N, Zhang J, Strand R, Malmberg F, Ou Y, Davatzikos C, Kirschner M, ... ... Dowling J, et al. Evaluation of prostate segmentation algorithms for MRI: the PROMISE12 challenge. Medical Image Analysis. 18: 359-73. PMID 24418598 DOI: 10.1016/J.Media.2013.12.002  0.05
2007 Wrbaskić N, Dowling JJ. An investigation into the deformable characteristics of the human foot using fluoroscopic imaging. Clinical Biomechanics (Bristol, Avon). 22: 230-8. PMID 17141925 DOI: 10.1016/j.clinbiomech.2006.09.006  0.049
1997 Zehr EP, Sale DG, Dowling JJ. Ballistic movement performance in karate athletes. Medicine and Science in Sports and Exercise. 29: 1366-73. PMID 9346169 DOI: 10.1097/00005768-199710000-00014  0.048
1997 Fuchs E, Yang Y, Dowling J, Kouklis P, Smith E, Guo L, Yu QC. Intermediate filament linker proteins Society of General Physiologists Series. 52: 141-148. PMID 9210226  0.048
2015 Schwabl H, Dowling J, Baldassarre DT, Gahr M, Lindsay WR, Webster MS. Variation in song system anatomy and androgen levels does not correspond to song characteristics in a tropical songbird Animal Behaviour. 104: 39-50. DOI: 10.1016/J.Anbehav.2015.03.006  0.045
2015 Sun J, Dowling J, Pichler P, Menk F, Rivest-Henault D, Lambert J, Parker J, Arm J, Best L, Martin J, Denham JW, Greer PB. MRI simulation: end-to-end testing for prostate radiation therapy using geometric pelvic MRI phantoms. Physics in Medicine and Biology. 60: 3097-109. PMID 25803177 DOI: 10.1088/0031-9155/60/8/3097  0.042
1999 Unnithan VB, Dowling JJ, Frost G, Bar-Or O. Role of mechanical power estimates in the O2 cost of walking in children with cerebral palsy. Medicine and Science in Sports and Exercise. 31: 1703-8. PMID 10613418  0.041
2005 Holmes JD, Andrews DM, Durkin JL, Dowling JJ. Predicting in vivo soft tissue masses of the lower extremity using segment anthropometric measures and DXA. Journal of Applied Biomechanics. 21: 371-82. PMID 16498182  0.04
2014 Rivest-Hénault D, Greer P, Fripp J, Dowling J. Structure-guided nonrigid registration of CT-MR pelvis scans with large deformations in MR-based image guided radiation therapy Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 8361: 65-73. DOI: 10.1007/978-3-319-05666-1_9  0.04
1989 Dowling JJ, McGuire K. The removal of electrical stimulation artifact from surface EMG Journal of Biomechanics. 22: 1004. DOI: 10.1016/0021-9290(89)90175-9  0.039
1954 GARTLAND JJ, DOWLING JJ. Recurrent anterior dislocation of the shoulder joint. Clinical Orthopaedics. 3: 86-91. PMID 13161169  0.037
2002 Dowling JJ, Whitty CJ, Chaponda M, Munthali C, Zijlstra EE, Gilks CF, Squire SB, Gordon MA. Are intestinal helminths a risk factor for non-typhoidal Salmonella bacteraemia in adults in Africa who are seropositive for HIV? A case-control study. Annals of Tropical Medicine and Parasitology. 96: 203-8. PMID 12080982 DOI: 10.1179/000349802125000277  0.036
2014 Sun J, Pichler P, Dowling J, Menk F, Stanwell P, Arm J, Greer PB. MR simulation for prostate radiation therapy: effect of coil mounting position on image quality. The British Journal of Radiology. 87: 20140325. PMID 25061776 DOI: 10.1259/bjr.20140325  0.036
2016 Rossi MM, Alderson J, El-Sallam A, Dowling J, Reinbolt J, Donnelly CJ. A new validation technique for estimations of body segment inertia tensors: Principal axes of inertia do matter. Journal of Biomechanics. PMID 27773362 DOI: 10.1016/J.Jbiomech.2016.10.006  0.035
1973 Katz SE, Fassbender CA, Dowling JJ. Oxytetracycline residues in tissue, organs, and eggs of poultry fed supplemented rations. Journal - Association of Official Analytical Chemists. 56: 77-81. PMID 4781046  0.035
2021 Qashqari H, Ramani A, Gonorazky H, Amburgey K, Ghahramani Seno MM, Brudno M, Naumenko S, Das S, Dowling JJ. Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. Neurology. PMID 34016710 DOI: 10.1212/WNL.0000000000012265  0.035
1990 Dowling J, Evans M, Haken J. Gas—liquid chromatography in qualitative analysis Journal of Chromatography A. 500: 355-365. DOI: 10.1016/S0021-9673(00)96077-1  0.035
1993 David Andrews B, Dowling JJ. The contribution of below knee wobbling mass to the estimation of vertical knee joint forces following impact with the ground Journal of Biomechanics. 26: 359. DOI: 10.1016/0021-9290(93)90589-7  0.034
2002 Durkin JL, Dowling JJ, Andrews DM. The measurement of body segment inertial parameters using dual energy X-ray absorptiometry. Journal of Biomechanics. 35: 1575-80. PMID 12445610 DOI: 10.1016/S0021-9290(02)00227-0  0.034
1997 Frost G, Dowling J, Bar-Or O, Dyson K. Ability of mechanical power estimations to explain differences in metabolic cost of walking and running among children Gait & Posture. 5: 120-127. DOI: 10.1016/S0966-6362(96)01108-3  0.034
1999 Scherer RF, Dowling JJ, Frost G, Robinson M, McLean K. Mechanical and Metabolic Work of Persons with Lower-Extremity Amputations Walking with Titanium and Stainless Steel Prostheses Jpo Journal of Prosthetics and Orthotics. 11: 38-42. DOI: 10.1097/00008526-199901120-00006  0.033
2013 Price JH, Thompson A, Khubchandani J, Wiblishauser M, Dowling J, Teeple K. Perceived roles of Emergency Department physicians regarding anticipatory guidance on firearm safety. The Journal of Emergency Medicine. 44: 1007-16. PMID 23352862 DOI: 10.1016/J.Jemermed.2012.11.010  0.033
2013 Ghose S, Denham J, Ebert M, Kennedy A, Mitra J, Rose S, Dowling J. Multi-atlas and Gaussian mixture modeling based perirectal fat segmentation from CT images Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 8198: 194-202. DOI: 10.1007/978-3-642-41083-3_22  0.033
2013 Craig S, Dowling J. 'Registrar in charge shifts': learning how to run a busy emergency department. Emergency Medicine Australasia : Ema. 25: 168-74. PMID 23560968 DOI: 10.1111/1742-6723.12042  0.029
1996 Frost G, Bar-Or O, Dowling J, Dyson K. EXPLAINING DIFFERENCES IN THE METABOLIC COST OF LOCOMOTION AMONG THREE AGE GROUPS OF CHILDREN 243 Medicine &Amp Science in Sports &Amp Exercise. 28: 41. DOI: 10.1097/00005768-199605001-00243  0.029
2013 Bandt SK, Werner N, Dines J, Rashid S, Eisenman LN, Hogan RE, Leuthardt EC, Dowling J. Trans-middle temporal gyrus selective amygdalohippocampectomy for medically intractable mesial temporal lobe epilepsy in adults: seizure response rates, complications, and neuropsychological outcomes. Epilepsy & Behavior : E&B. 28: 17-21. PMID 23648275 DOI: 10.1016/J.Yebeh.2013.03.020  0.029
2014 Ostrom QT, Gittleman H, Liao P, Rouse C, Chen Y, Dowling J, Wolinsky Y, Kruchko C, Barnholtz-Sloan J. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2007-2011. Neuro-Oncology. 16: iv1-63. PMID 25304271 DOI: 10.1093/Neuonc/Nou223  0.028
1972 Katz SE, Fassbender CA, Dorfman D, Dowling JJ. Chlortetracycline residues in broiler tissue and organs. Journal - Association of Official Analytical Chemists. 55: 134-8. PMID 4666830  0.027
2015 Whelan B, Kumar S, Dowling J, Begg J, Lambert J, Lim K, Vinod SK, Greer PB, Holloway L. Utilising pseudo-CT data for dose calculation and plan optimization in adaptive radiotherapy. Australasian Physical & Engineering Sciences in Medicine / Supported by the Australasian College of Physical Scientists in Medicine and the Australasian Association of Physical Sciences in Medicine. PMID 26337163 DOI: 10.1007/s13246-015-0376-z  0.026
2014 Rivest-Hénault D, Dowson N, Greer P, Dowling J. Inverse-consistent rigid registration of CT and MR for MR-based planning and adaptive prostate radiation therapy Journal of Physics: Conference Series. 489. DOI: 10.1088/1742-6596/489/1/012039  0.025
2014 Dowling J, Dang K, Fox CD, Chandra S, Gill S, Kron T, Pham D, Foroudi F. Fast cine-magnetic resonance imaging point tracking for prostate cancer radiation therapy planning Journal of Physics: Conference Series. 489. DOI: 10.1088/1742-6596/489/1/012027  0.025
1974 Katz SE, Fassbender CA, Dinnerstein PS, Dowling JJ. Effects of feeding penicillin to chickens. Journal - Association of Official Analytical Chemists. 57: 522-6. PMID 4833388  0.025
2015 Ghose S, Mitra J, Khanna S, Dowling J. An Improved Patient-Specific Mortality Risk Prediction in ICU in a Random Forest Classification Framework Studies in Health Technology and Informatics. 214: 56-61. DOI: 10.3233/978-1-61499-558-6-56  0.024
1961 DOWLING JJ, SAWYER B. Comminuted Colles' fractures. Evaluation of a method of treatment. The Journal of Bone and Joint Surgery. American Volume. 43: 657-68. PMID 13724153  0.023
2015 Wu G, Liam Finn WD, Dowling J. Quasi-3D analysis: Validation by full 3D analysis and field tests on single piles and pile groups Soil Dynamics and Earthquake Engineering. 78: 61-70. DOI: 10.1016/j.soildyn.2015.07.006  0.022
1992 David Andrews B, Dowling JJ. Center of pressure estimation during running without a force platform Journal of Biomechanics. 25: 671. DOI: 10.1016/0021-9290(92)90166-X  0.022
2015 Gholami A, Dowling J, Laure E. A security framework for population-scale genomics analysis Proceedings of the 2015 International Conference On High Performance Computing and Simulation, Hpcs 2015. 106-114. DOI: 10.1109/HPCSim.2015.7237028  0.021
1994 Zehr EP, Sale DG, Dowling JJ. 572 AGONIST PREMOVEMENT DEPRESSION IS NOT A NATURALLY ACQUIRED LEARNED MOTOR RESPONSE IN KARATE-TRAINED SUBJECTS Medicine & Science in Sports & Exercise. 26: S101. DOI: 10.1249/00005768-199405001-00574  0.02
2015 Ghose S, Mitra J, Karunanithi M, Dowling J. Human Activity Recognition from Smart-Phone Sensor Data using a Multi-Class Ensemble Learning in Home Monitoring Studies in Health Technology and Informatics. 214: 62-67. DOI: 10.3233/978-1-61499-558-6-62  0.018
1994 Frost G, Dowling J, Bar-Or O, Dyson K. 956 Relationship between metabouc cost ano mechanical power output in children during treadmill running Medicine & Science in Sports & Exercise. 26: S171. DOI: 10.1249/00005768-199405001-00958  0.017
1972 Katz SE, Fassbender CA, Dowling JJ. Chlortetracycline residues in eggs from hens on chlortetracycline-supplemented diets. Journal - Association of Official Analytical Chemists. 55: 128-33. PMID 4666829  0.017
2014 Acosta O, Dowling J, Drean G, Simon A, De Crevoisier R, Haigron P. Multi-atlas-based segmentation of pelvic structures from ct scans for planning in prostate cancer radiotherapy Abdomen and Thoracic Imaging: An Engineering and Clinical Perspective. 623-656. DOI: 10.1007/978-1-4614-8498-1_24  0.016
2001 Hoare J, Henkler F, Dowling JJ, Errington W, Goldin RD, Fish D, McGarvey MJ. Subcellular localisation of the X protein in HBV infected hepatocytes. Journal of Medical Virology. 64: 419-26. PMID 11468725 DOI: 10.1002/jmv.1067  0.016
2015 Niazi S, Ismail M, Berthou G, Dowling J. Leader election using NewSQL database systems Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 9038: 158-172. DOI: 10.1007/978-3-319-19129-4_13  0.015
2013 O'Brien EJ, González A, Dowling J, Žnidarič A. Direct measurement of dynamics in road bridges using a bridge Weigh-in-Motion system | Tiesioginis tiltu{ogonek} dinamikos tyrimas naudojant tiltu judančiu{ogonek} transporto priemoniu{ogonek} svėrimo sistema{ogonek} Baltic Journal of Road and Bridge Engineering. 8: 263-270. DOI: 10.3846/bjrbe.2013.34  0.014
1993 Frost G, Bar-Or O, Dowling J, White C. 44 HABITUATION OF CHILDREN TO TREADMILL WALKING OR RUNNING Medicine & Science in Sports & Exercise. 25: S8. DOI: 10.1249/00005768-199305001-00045  0.013
2013 Dowling J, Taïani F. Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics): Preface Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 7891: VII-VIII.  0.011
2014 Dowling J, Parker J. Investigating the optimization of mid-course maneuvers to Earth-Moon L2 libration orbit Advances in the Astronautical Sciences. 152: 623-640.  0.01
2011 McMorrow RC, Ni Mhuircheartaigh RJ, Ahmed KA, Aslani A, Ng SC, Conrick-Martin I, Dowling JJ, Gaffney A, Loughrey JP, McCaul CL. Comparison of transversus abdominis plane block vs spinal morphine for pain relief after Caesarean section. British Journal of Anaesthesia. 106: 706-12. PMID 21498494 DOI: 10.1093/bja/aer061  0.01
2015 Baig R, Dowling J, Escrich P, Freitag F, Meseguer R, Moll A, Navarro L, Pietrosemoli E, Pueyo R, Vlassov V, Zennaro M. Deploying clouds in the Guifi community network Proceedings of the 2015 Ifip/Ieee International Symposium On Integrated Network Management, Im 2015. 1020-1025. DOI: 10.1109/INM.2015.7140428  0.01
2015 Finn WDL, Dowling J, Taiebat M, Wu G. Distribution of seismic loads in large pile groups Computer Methods and Recent Advances in Geomechanics - Proceedings of the 14th Int. Conference of International Association For Computer Methods and Recent Advances in Geomechanics, Iacmag 2014. 803-807.  0.01
2015 Bux M, Brandt J, Lipka C, Hakimzadeh K, Dowling J, Leser U. SAASFEE: Scalable scientific workflow execution engine Proceedings of the Vldb Endowment. 8: 1892-1895.  0.01
2014 Finn WDL, Dowling J, Wu G. Load distribution in large pile groups for static and dynamic loading Ncee 2014 - 10th U.S. National Conference On Earthquake Engineering: Frontiers of Earthquake Engineering. DOI: 10.4231/D3GH9B93P  0.01
2013 Roverso R, Dowling J, Jelasity M. Through the wormhole: Low cost, fresh peer sampling for the Internet 13th Ieee International Conference On Peer-to-Peer Computing, Ieee P2p 2013 - Proceedings. DOI: 10.1109/P2P.2013.6688707  0.01
2013 Ghose S, Holloway L, Lim K, Chan P, Veera J, Vinod SK, Liney G, Greer PB, Dowling J. A survey of cervix segmentation methods in magnetic resonance images Lecture Notes in Computer Science (Including Subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics). 8198: 290-298. DOI: 10.1007/978-3-642-41083-3_32  0.01
2003 Robertson DG, Dowling JJ. Design and responses of Butterworth and critically damped digital filters. Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology. 13: 569-73. PMID 14573371  0.01
2002 Sweeney AT, Blake MA, Aish LS, Pais VM, Dowling JJ, Melby JC, Tully GL. A malignant aldosteronoma. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 8: 373-7. PMID 15251840 DOI: 10.4158/EP.8.5.373  0.01
1990 Dowling J. Estimating porosity of partially saturated sediments Engineering Geology. 29: 139-147. DOI: 10.1016/0013-7952(90)90003-J  0.01
1984 Worthington MG, O'Donnell KF, Dowling JJ, Murphy T, Whitmore EL. Granulomatous hepatitis in Yersinia enterocolitica bacteraemia. The Journal of Infection. 9: 170-3. PMID 6501906  0.01
1966 De Palma AF, Gartland JJ, Dowling JJ. Colles' fracture. Pennsylvania Medicine. 69: 72-5. PMID 5978945  0.01
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