| 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⺠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 |
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