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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. 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.
Expression of Concern: Emphysematous Cystitis: A Radiological Diagnosis of Potentially Life-Threatening Infection.
Alhusayni SA, Alshammari TH, Althomali AA, Alqahtani MM, Alanazi WA, Alghamdi MA, AlDawsari FM, Homoud EM, Alharbi AA, Althobaiti KE, Alsubaihi AA, Alsayed AM, Albaqami AM, Alamer AM, Al-Hawaj F. Alhusayni SA, et al. Cureus. 2022 Apr 7;14(4):x32. doi: 10.7759/cureus.x32. eCollection 2022 Apr. Cureus. 2022. PMID: 35463584 Free PMC article. No abstract available.
Emphysematous Cystitis: A Radiological Diagnosis of Potentially Life-Threatening Infection.
Alhusayni SA, Alshammari TH, Althomali AA, Alqahtani MM, Alanazi WA, Alghamdi MA, AlDawsari FM, Homoud EM, Alharbi AA, Althobaiti KE, Alsubaihi AA, Alsayed AM, Albaqami AM, Alamer AM, Al-Hawaj F. Alhusayni SA, et al. Cureus. 2021 Dec 6;13(12):e20201. doi: 10.7759/cureus.20201. eCollection 2021 Dec. Cureus. 2021. Retraction in: Cureus. 2024 Jan 25;16(1):r110. doi: 10.7759/cureus.r110 PMID: 35004022 Free PMC article. Retracted.
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