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A decade of optimizing drug development for rare neuromuscular disorders through TACT.
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, Straub V. Wagner KR, et al. Among authors: dowling j. Nat Rev Drug Discov. 2020 Jan;19(1):1-2. doi: 10.1038/d41573-019-00199-1. Nat Rev Drug Discov. 2020. PMID: 31907422 No abstract available.
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
Treatments for RYR1-related disorders.
Raga S, Voermans N, Perez-Neri I, Dowling J, Jungbluth H, Baranello G, Servais L, Tillema A, Wilmshurst J. Raga S, et al. Among authors: dowling j. Cochrane Database Syst Rev. 2024 Dec 10;12(12):CD014439. doi: 10.1002/14651858.CD014439. Cochrane Database Syst Rev. 2024. PMID: 39655671 Free PMC article.
Electronic Monitoring of Mom's Schedule (eMOMS™): A Feasibility Randomized Controlled Trial Targeting Postpartum Weight Retention and Breastfeeding Duration Among Populations With Overweight/Obesity.
Jacobson LT, Befort C, Okut H, Zackula R, Dowling J, Stern JE, Robbins DC, Wolfe MD, Kluding P, Grainger DA. Jacobson LT, et al. Among authors: dowling j. J Hum Lact. 2024 Nov 26:8903344241297604. doi: 10.1177/08903344241297604. Online ahead of print. J Hum Lact. 2024. PMID: 39588730
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.
1,236 results