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Page 1
Ballistic movement performance in karate athletes.
Zehr EP, Sale DG, Dowling JJ. Zehr EP, et al. Among authors: dowling jj. Med Sci Sports Exerc. 1997 Oct;29(10):1366-73. doi: 10.1097/00005768-199710000-00014. Med Sci Sports Exerc. 1997. PMID: 9346169
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
Hodgkinson V, Lounsberry J, M'Dahoma S, Russell A, Jewett G, Benstead T, Brais B, Campbell C, Johnston W, Lochmüller H, McCormick A, Nguyen CT, O'Ferrall E, Oskoui M, Abrahao A, Briemberg H, Bourque PR, Botez S, Cashman N, Chapman K, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Grant I, Hasal S, Izenberg A, Kalra S, Katzberg H, Krieger C, Leung E, Linassi G, Mackenzie A, Mah JK, Marrero A, Massie R, Matte G, McAdam L, McMillan H, Melanson M, Mezei MM, O'Connell C, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg K, Selby K, Sheriko J, Shoesmith C, Smith RG, Taillon M, Taylor S, Venance S, Warman-Chardon J, Worley S, Zinman L, Korngut L. Hodgkinson V, et al. Among authors: dowling jj. J Neuromuscul Dis. 2021;8(1):53-61. doi: 10.3233/JND-200538. J Neuromuscul Dis. 2021. PMID: 32925088 Free PMC article.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
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, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: dowling jj. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: dowling jj. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies.
McMillan HJ, Gonorazky H, Campbell C, Chrestian N, Crone M, Dowling JJ, Joyal K, Kolski H, Leung E, Mackenzie A, Mah JK, McAdam L, Nigro E, Nguyen CT, Oskoui M, Poulin C, Sheriko J, Tarnopolsky M, Vajsar J, Yaworski A, Selby K. McMillan HJ, et al. Among authors: dowling jj. Can J Neurol Sci. 2024 Nov 13:1-3. doi: 10.1017/cjn.2024.319. Online ahead of print. Can J Neurol Sci. 2024. PMID: 39534980 No abstract available.
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: dowling jj. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.
A pro-oxidant suppresses unrelated diseases.
Pannia E, Dowling JJ. Pannia E, et al. Among authors: dowling jj. Science. 2024 Oct 25;386(6720):380-381. doi: 10.1126/science.adt2538. Epub 2024 Oct 24. Science. 2024. PMID: 39446962
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation.
Knox J, Burns AR, Cooke B, Cammalleri SR, Kitner M, Ching J, Castelli JMP, Puumala E, Snider J, Koury E, Collins JB, Geissah S, Dowling JJ, Andersen EC, Stagljar I, Cowen LE, Lautens M, Zasada I, Roy PJ. Knox J, et al. Among authors: dowling jj. Nat Commun. 2024 Jul 2;15(1):5529. doi: 10.1038/s41467-024-49738-4. Nat Commun. 2024. PMID: 38956039 Free PMC article.
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. Dowling JJ, et al. Nat Med. 2024 Jul;30(7):1882-1887. doi: 10.1038/s41591-024-03078-4. Epub 2024 Jun 28. Nat Med. 2024. PMID: 38942994 Free PMC article. Clinical Trial.
A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Djordjevic D, Alawneh I, Amburgey K, Yuki KE, Kyriakopoulou LG, Navickiene V, Stavropoulos J, Yoon G, Dowling JJ, Gonorazky H. Djordjevic D, et al. Among authors: dowling jj. Neuromuscul Disord. 2024 Jun;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Epub 2024 Apr 5. Neuromuscul Disord. 2024. PMID: 38691940
198 results