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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
Barriers and co-designed strategies for the implementation of negative pressure wound therapy in acute pediatric burn care in Australia: A mixed method study.
Holbert MD, Duff J, Wood F, Holland AJA, Teague W, Frear C, Crellin D, Phillips N, Storey K, Martin L, Singer Y, Dimanopoulos TA, Cuttle L, Vagenas D, McPhail S, Calleja P, De Young A, Kimble RM, Griffin BR. Holbert MD, et al. Among authors: duff j. J Pediatr Nurs. 2024 May 17:S0882-5963(24)00200-8. doi: 10.1016/j.pedn.2024.05.018. Online ahead of print. J Pediatr Nurs. 2024. PMID: 38762422 Free article.
671 results