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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: venturini c. 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.
Translating metagenomics into clinical practice for complex paediatric neurological presentations.
Penner J, Hassell J, Brown JR, Mankad K, Storey N, Atkinson L, Ranganathan N, Lennon A, Lee JCD, Champsas D, Kopec A, Shah D, Venturini C, Dixon G, De S, Hatcher J, Harris K, Aquilina K, Kusters MA, Moshal K, Shingadia D, Worth AJJ, Lucchini G, Merve A, Jacques TS, Bamford A, Kaliakatsos M, Breuer J, Morfopoulou S. Penner J, et al. Among authors: venturini c. J Infect. 2023 Nov;87(5):451-458. doi: 10.1016/j.jinf.2023.08.002. Epub 2023 Aug 7. J Infect. 2023. PMID: 37557958 No abstract available.
Using a human colonoid-derived monolayer to study bacteriophage translocation.
Le HT, Lubian AF, Bowring B, van der Poorten D, Iredell J, George J, Venturini C, Ahlenstiel G, Read S. Le HT, et al. Among authors: venturini c. Gut Microbes. 2024 Jan-Dec;16(1):2331520. doi: 10.1080/19490976.2024.2331520. Epub 2024 Mar 22. Gut Microbes. 2024. PMID: 38517357 Free PMC article.
Use of Bacteriophages to Target Intracellular Pathogens.
Fajardo-Lubian A, Venturini C. Fajardo-Lubian A, et al. Among authors: venturini c. Clin Infect Dis. 2023 Nov 2;77(Suppl 5):S423-S432. doi: 10.1093/cid/ciad515. Clin Infect Dis. 2023. PMID: 37932114 Review.
Genomic and geographical structure of human cytomegalovirus.
Charles OJ, Venturini C, Gantt S, Atkinson C, Griffiths P, Goldstein RA, Breuer J. Charles OJ, et al. Among authors: venturini c. Proc Natl Acad Sci U S A. 2023 Jul 25;120(30):e2221797120. doi: 10.1073/pnas.2221797120. Epub 2023 Jul 17. Proc Natl Acad Sci U S A. 2023. PMID: 37459519 Free PMC article.
A multi-scale clutch model for adhesion complex mechanics.
Venturini C, Sáez P. Venturini C, et al. PLoS Comput Biol. 2023 Jul 14;19(7):e1011250. doi: 10.1371/journal.pcbi.1011250. eCollection 2023 Jul. PLoS Comput Biol. 2023. PMID: 37450544 Free PMC article.
Positive, negative and controlled durotaxis.
Sáez P, Venturini C. Sáez P, et al. Among authors: venturini c. Soft Matter. 2023 Apr 26;19(16):2993-3001. doi: 10.1039/d2sm01326f. Soft Matter. 2023. PMID: 37016959
Genomic investigations of unexplained acute hepatitis in children.
Morfopoulou S, Buddle S, Torres Montaguth OE, Atkinson L, Guerra-Assunção JA, Moradi Marjaneh M, Zennezini Chiozzi R, Storey N, Campos L, Hutchinson JC, Counsell JR, Pollara G, Roy S, Venturini C, Antinao Diaz JF, Siam A, Tappouni LJ, Asgarian Z, Ng J, Hanlon KS, Lennon A, McArdle A, Czap A, Rosenheim J, Andrade C, Anderson G, Lee JCD, Williams R, Williams CA, Tutill H, Bayzid N, Martin Bernal LM, Macpherson H, Montgomery KA, Moore C, Templeton K, Neill C, Holden M, Gunson R, Shepherd SJ, Shah P, Cooray S, Voice M, Steele M, Fink C, Whittaker TE, Santilli G, Gissen P, Kaufer BB, Reich J, Andreani J, Simmonds P, Alrabiah DK, Castellano S, Chikowore P, Odam M, Rampling T, Houlihan C, Hoschler K, Talts T, Celma C, Gonzalez S, Gallagher E, Simmons R, Watson C, Mandal S, Zambon M, Chand M, Hatcher J, De S, Baillie K, Semple MG; DIAMONDS Consortium; PERFORM Consortium; ISARIC 4C Investigators; Martin J, Ushiro-Lumb I, Noursadeghi M, Deheragoda M, Hadzic N, Grammatikopoulos T, Brown R, Kelgeri C, Thalassinos K, Waddington SN, Jacques TS, Thomson E, Levin M, Brown JR, Breuer J. Morfopoulou S, et al. Among authors: venturini c. Nature. 2023 May;617(7961):564-573. doi: 10.1038/s41586-023-06003-w. Epub 2023 Mar 30. Nature. 2023. PMID: 36996872 Free PMC article.
165 results