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[No title available]
[No authors listed] [No authors listed] PMID: 38564999
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: romero nb. 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.
Myofibrillar myopathy hallmarks associated with ZAK deficiency.
Stonadge A, Genzor AV, Russell A, Hamed MF, Romero N, Evans G, Pownall ME, Bekker-Jensen S, Blanco G. Stonadge A, et al. Hum Mol Genet. 2023 Aug 26;32(17):2751-2770. doi: 10.1093/hmg/ddad113. Hum Mol Genet. 2023. PMID: 37427997 Free PMC article.
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL, Clayton JS. Driver K, et al. Among authors: romero nb. Stem Cell Res. 2023 Dec;73:103258. doi: 10.1016/j.scr.2023.103258. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38029555 Free article.
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Lemerle E, Lainé J, Benoist M, Moulay G, Bigot A, Labasse C, Madelaine A, Canette A, Aubin P, Vallat JM, Romero NB, Bitoun M, Mouly V, Marty I, Cadot B, Picas L, Vassilopoulos S. Lemerle E, et al. Among authors: romero nb. Elife. 2023 Apr 21;12:e84139. doi: 10.7554/eLife.84139. Elife. 2023. PMID: 37083699 Free PMC article.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: romero nb. Stem Cell Res. 2024 Mar 30;77:103410. doi: 10.1016/j.scr.2024.103410. Online ahead of print. Stem Cell Res. 2024. PMID: 38583293 Free article.
220 results