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Page 1
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: duff j. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Kadhim H, El-Howayek E, Coppens S, Duff J, Topf A, Kaleeta JP, Simoni P, Boitsios G, Remiche G, Straub V, Vilain C, Deconinck N. Kadhim H, et al. Among authors: duff j. Neuromuscul Disord. 2023 May;33(5):410-416. doi: 10.1016/j.nmd.2023.03.007. Epub 2023 Mar 22. Neuromuscul Disord. 2023. PMID: 37037050
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez JJ, Cairns A, Harris E, Marini-Bettolo C, Ravenscroft G, Straub V. Johari M, et al. Among authors: duff j. medRxiv [Preprint]. 2024 Feb 11:2024.02.10.24302480. doi: 10.1101/2024.02.10.24302480. medRxiv. 2024. Update in: J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970 PMID: 38370827 Free PMC article. Updated. Preprint.
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V. Johari M, et al. Among authors: duff j. J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970. J Med Genet. 2024. PMID: 39209426 Free PMC article.
Implementation of negative pressure for acute pediatric burns (INPREP): A stepped-wedge cluster randomized controlled trial protocol.
Holbert MD, Wood F, Holland AJA, Teague W, Kimble RM, Crellin D, Frear CC, Storey K, Phillips N, Singer Y, Dimanopoulos TA, Martin L, Cuttle L, Vagenas D, McPhail SM, Calleja P, Duff J, De Young A, Griffin BR. Holbert MD, et al. Among authors: duff j. PLoS One. 2024 Dec 10;19(12):e0315278. doi: 10.1371/journal.pone.0315278. eCollection 2024. PLoS One. 2024. PMID: 39656723 Free PMC article.
Effect of correcting iron deficiency on the risk of serious infection in heart failure: Insights from the IRONMAN trial.
Foley PW, Kalra PR, Cleland JGF, Petrie MC, Kalra PA, Squire I, Campbell P, Chapman C, Donnelly P, Graham F, Hannah A, Lang NN, Matthews I, Leslie SJ, Pellicori P, Piper S, Ray R, Savage HO, Spencer C, Walsh J, Wong YK, Ford I;  on behalf of the IRONMAN Study Group. Foley PW, et al. Eur J Heart Fail. 2024 Oct 25. doi: 10.1002/ejhf.3504. Online ahead of print. Eur J Heart Fail. 2024. PMID: 39453738
In-Person Healthcare Simulation: An Umbrella Review of the Literature.
Palaganas JC, Mosher C, Wawersik D, Eller S, Kirkpatrick AJ, Lazarovici M, Brown KM, Stapleton S, Hughes PG, Tarbet A, Morton A, Duff JP, Gross IT, Sanko J. Palaganas JC, et al. Among authors: duff jp. Simul Healthc. 2024 Oct 1. doi: 10.1097/SIH.0000000000000822. Online ahead of print. Simul Healthc. 2024. PMID: 39353859
688 results