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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.
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.
The Discovery of MORF-627, a Highly Selective Conformationally-Biased Zwitterionic Integrin αvβ6 Inhibitor for Fibrosis.
Harrison BA, Dowling JE, Bursavich MG, Troast DM, Chong KM, Hahn KN, Zhong C, Mulvihill KM, Nguyen H, Monroy MF, Qiao Q, Sosa B, Mostafavi S, Smukste I, Lee D, Cappellucci L, Konopka EH, Nowakowski P, Stawski L, Senices M, Nguyen MH, Kapoor PS, Luus L, Sullivan A, Bortolato A, Svensson M, Hickey ER, Konze KD, Day T, Kim B, Negri A, Gerasyuto AI, Moy TI, Lu M, Ray AS, Wang L, Cui D, Lin FY, Lippa B, Rogers BN. Harrison BA, et al. Among authors: dowling je. J Med Chem. 2024 Nov 14;67(21):18656-18681. doi: 10.1021/acs.jmedchem.4c01851. Epub 2024 Oct 24. J Med Chem. 2024. PMID: 39446989
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
1,235 results