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James Dowling

TitleStaff Neurologist
InstitutionThe Hospital for Sick Children
DepartmentNeurology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. 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. Nat Commun. 2018 Nov 19; 9(1):4849. PMID: 30451841.
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    2. Zhao M, Maani N, Dowling JJ. Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. Neurotherapeutics. 2018 Oct; 15(4):966-975. PMID: 30426359.
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    3. 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. Neuromuscul Disord. 2018 Jul; 28(7):592-596. PMID: 29759639.
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    4. 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, Meilleur KG. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Front Neurol. 2018; 9:118. PMID: 29556213.
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    5. Gonorazky HD, Bönnemann CG, Dowling JJ. The genetics of congenital myopathies. Handb Clin Neurol. 2018; 148:549-564. PMID: 29478600.
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    6. Litman RS, Griggs SM, Dowling JJ, Riazi S. Malignant Hyperthermia Susceptibility and Related Diseases. Anesthesiology. 2018 01; 128(1):159-167. PMID: 28902673.
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    7. 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, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. 2018 Feb; 55(2):104-113. PMID: 29097605.
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    8. 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. 2017; 12(10):e0186645. PMID: 29053735.
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    9. Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A. 2018 Apr; 176(4):804-841. PMID: 28889642.
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    10. 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. 2017 Sep 26; 89(13):1355-1364. PMID: 28842446.
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    11. 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. Neurol Genet. 2017 Oct; 3(5):e182. PMID: 28852708.
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    12. 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, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    13. 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. 2017 11; 56(5):E41-E44. PMID: 28667691.
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    14. 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, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017 04 19; 9(386). PMID: 28424332.
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    15. Kraeva N, Sapa A, Dowling JJ, Riazi S. Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review. Can J Anaesth. 2017 Jul; 64(7):736-743. PMID: 28326467.
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    16. 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. 2017; 12(2):e0172648. PMID: 28241031.
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    17. Dowling JJ. Eteplirsen therapy for Duchenne muscular dystrophy: skipping to the front of the line. Nat Rev Neurol. 2016 12; 12(12):675-676. PMID: 27857122.
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    18. Kinnett K, Dowling JJ, Mendell JR. "The Certified Duchenne Care Center Program". Neuromuscul Disord. 2016 Dec; 26(12):853-859. PMID: 27856129.
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    19. 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. J Clin Invest. 2016 09 01; 126(9):3613-25. PMID: 27548528.
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    20. Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscul Disord. 2016 09; 26(9):624-33. PMID: 27377473.
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    21. 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, McFarlane S, Huang P, Wen XY, Akimenko MA, Waskiewicz AJ, Drapeau P, Babiuk LA, Dragon D, Smida A, Buret AG, O'Grady E, Wilson J, Sowden-Plunkett L, Tropepe V. Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. Zebrafish. 2016 07; 13 Suppl 1:S153-63. PMID: 27248438.
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    22. 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. Neuromuscul Disord. 2016 Mar; 26(3):201-6. PMID: 26951757.
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    23. 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. J Neuropathol Exp Neurol. 2016 Feb; 75(2):102-10. PMID: 26823526; PMCID: PMC4765322.
    24. 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. Neurobiol Dis. 2016 May; 89:36-45. PMID: 26807988; PMCID: PMC4991781 [Available on 05/01/17].
    25. 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, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. Am J Hum Genet. 2016 Jan 07; 98(1):90-101. PMID: 26686765; PMCID: PMC4716669.
    26. 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. Ann Clin Transl Neurol. 2016 01; 3(1):55-60. PMID: 26783550.
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    27. Smith SJ, Horstick EJ, Davidson AE, Dowling J. Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye. J Vis Exp. 2015 Nov 30; (105). PMID: 26649573.
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    28. Dowling JJ, Moore SA, Kalimo H, Minassian BA. X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathol. 2015 Mar; 129(3):383-90. PMID: 25644398.
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    29. 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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. PMID: 25654555; PMCID: PMC4382254.
    30. 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. 2014 Dec 02; 83(23):2175-82. PMID: 25361784; PMCID: PMC4276403.
    31. Dowling JJ, Lawlor MW, Dirksen RT. Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics. 2014 Oct; 11(4):773-85. PMID: 25168790; PMCID: PMC4391390.
    32. 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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. PMID: 25250574; PMCID: PMC4347224.
    33. 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, Han R, Xu H. The intracellular Ca²? channel MCOLN1 is required for sarcolemma repair to prevent muscular dystrophy. Nat Med. 2014 Oct; 20(10):1187-92. PMID: 25216637; PMCID: PMC4192061.
    34. 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. Can J Anaesth. 2014 Nov; 61(11):1040-9. PMID: 25189431; PMCID: PMC4276369.
    35. 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. Hum Mol Genet. 2014 Sep 01; 23(17):4651-62. PMID: 24760771; PMCID: PMC4119416.
    36. Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Conditional knockout of pik3c3 causes a murine muscular dystrophy. Am J Pathol. 2014 Jun; 184(6):1819-30. PMID: 24726497; PMCID: PMC4044722.
    37. 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. Front Physiol. 2014; 5:14. PMID: 24478725; PMCID: PMC3904128.
    38. 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. Neuromuscul Disord. 2014 Feb; 24(2):97-116. PMID: 24456932.
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    39. Horstick EJ, Gibbs EM, Li X, Davidson AE, Dowling JJ. Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations. J Vis Exp. 2013 Nov 13; (81):e50259. PMID: 24300240; PMCID: PMC3990831.
    40. 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. Dis Model Mech. 2014 Feb; 7(2):289-98. PMID: 24203884; PMCID: PMC3917250.
    41. 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. Dis Model Mech. 2014 Jan; 7(1):157-61. PMID: 24135484; PMCID: PMC3882057.
    42. 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. Dis Model Mech. 2014 Jan; 7(1):143-55. PMID: 24092878; PMCID: PMC3882056.
    43. 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. Skelet Muscle. 2013 Sep 01; 3(1):21. PMID: 24004519; PMCID: PMC3844516.
    44. Dowling JJ. Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? Neurology. 2013 Oct 01; 81(14):1189-90. PMID: 23975873.
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    45. 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 J Rare Dis. 2013 Aug 06; 8:117. PMID: 23919265; PMCID: PMC3751094.
    46. Gibbs EM, Horstick EJ, Dowling JJ. Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. FEBS J. 2013 Sep; 280(17):4187-97. PMID: 23809187; PMCID: PMC4017590.
    47. Sloboda DD, Claflin DR, Dowling JJ, Brooks SV. Force measurement during contraction to assess muscle function in zebrafish larvae. J Vis Exp. 2013 Jul 23; (77). PMID: 23912162; PMCID: PMC3846141.
    48. 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. 2013 Apr 23; 80(17):1584-9. PMID: 23553484; PMCID: PMC3662324.
    49. 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. Neuromuscul Disord. 2013 May; 23(5):432-6. PMID: 23478172; PMCID: PMC4103162.
    50. 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. 2013; 8(2):e55888. PMID: 23418470; PMCID: PMC3572173.
    51. 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, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain. 2013 Feb; 136(Pt 2):508-21. PMID: 23413262; PMCID: PMC3572924.
    52. Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. J Mol Med (Berl). 2013 Jun; 91(6):727-37. PMID: 23338057.
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    53. 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, Hirata H, Kuwada JY. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 2013; 4:1952. PMID: 23736855; PMCID: PMC4056023.
    54. 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. Mol Neurodegener. 2012 Aug 31; 7:44. PMID: 22938571; PMCID: PMC3506515.
    55. 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. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. PMID: 22818856; PMCID: PMC3415545.
    56. 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. Dis Model Mech. 2012 Nov; 5(6):852-9. PMID: 22645112; PMCID: PMC3484867.
    57. 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, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59. PMID: 22396310; PMCID: PMC3374402.
    58. Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Curr Neurol Neurosci Rep. 2012 Apr; 12(2):165-74. PMID: 22392505; PMCID: PMC4491488.
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    60. 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. 2012 Apr; 135(Pt 4):1115-27. PMID: 22418739; PMCID: PMC3326256.
    61. 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, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel-Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012 Mar; 27(3):363-82. PMID: 22431881.
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    62. 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. J Genet Couns. 2012 Oct; 21(5):713-25. PMID: 22367485.
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    63. 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. J Neurosci Methods. 2012 Apr 15; 205(2):277-82. PMID: 22285259; PMCID: PMC3433854.
    64. Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands. Neuromuscul Disord. 2012 May; 22(5):453-62. PMID: 22226685.
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    65. Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Dis Model Mech. 2012 May; 5(3):389-96. PMID: 22159874; PMCID: PMC3339832.
    66. 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. Hum Mol Genet. 2012 Feb 15; 21(4):811-25. PMID: 22068590; PMCID: PMC3263994.
    67. Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol. 2011 Oct; 70(4):662-5. PMID: 22028225.
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    68. 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 Genet. 2011 Jun; 7(6):e1002104. PMID: 21655088.
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    69. 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, Jungbluth H. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011 Jun; 21(6):420-7. PMID: 21514828.
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    70. 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, Jungbluth H, Pitt MC, Muntoni F. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord. 2011 Jun; 21(6):379-86. PMID: 21440438.
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    71. 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. 2011 May 05; 117(18):4978-87. PMID: 21378273; PMCID: PMC3100704.
    72. Gibbs EM, Feldman EL, Dowling JJ. The role of MTMR14 in autophagy and in muscle disease. Autophagy. 2010 Aug; 6(6):819-20. PMID: 20595810.
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    73. 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 Genet. 2009 Feb; 5(2):e1000372. PMID: 19197364; PMCID: PMC2631153.
    74. Dowling JJ, Vreede AP, Kim S, Golden J, Feldman EL. Kindlin-2 is required for myocyte elongation and is essential for myogenesis. BMC Cell Biol. 2008 Jul 08; 9:36. PMID: 18611274; PMCID: PMC2478659.
    75. Dowling JJ, Gibbs EM, Feldman EL. Membrane traffic and muscle: lessons from human disease. Traffic. 2008 Jul; 9(7):1035-43. PMID: 18266915; PMCID: PMC2935664.
    76. 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. Circ Res. 2008 Feb 29; 102(4):423-31. PMID: 18174465.
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    77. 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. 2007 Jul 05; 448(7149):68-72. PMID: 17572665.
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    78. 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. Eur J Hum Genet. 2003 Jul; 11(7):527-34. PMID: 12825074.
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    79. 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). Hum Mutat. 2002 Jan; 19(1):4-15. PMID: 11754098.
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