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Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
Maio N, Orbach R, Zaharieva I, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault T, Bönnemann CG. Maio N, et al. Among authors: krishnakumar d. medRxiv [Preprint]. 2023 Dec 20:2023.12.20.23300170. doi: 10.1101/2023.12.20.23300170. medRxiv. 2023. Update in: J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559. PMID: 38196629 Free PMC article. Updated. Preprint.
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
Maio N, Orbach R, Zaharieva IT, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault TA, Bönnemann CG. Maio N, et al. Among authors: krishnakumar d. J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559. J Clin Invest. 2024. PMID: 38950322 Free PMC article.
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton JS, Griffin KR, Jones KJ, Vilain CN, Kadhim H, Bryen SJ, Faiz F, Waddell LB, Evesson FJ, Bakshi M, Pinner JR, Charlton A, Brammah S, Graf NS, Krivanek M, Tay CG, Foulds NC, Illingworth MA, Thomas NH, Ellard S, Mazanti I, Park SM, French CE, Brewster J, Belteki G, Hoodbhoy S, Allinson K, Krishnakumar D, Baynam G, Wood BM, Ward M, Vijayakumar K, Syed A, Murugan A, Majumdar A, Scurr IJ, Splitt MP, Moldovan C, de Silva DC, Senanayake K, Gardeitchik T, Arens Y, Cooper ST, Laing NG, Raymond FL, Jungbluth H, Kamsteeg EJ, Manzur A, Corley SM, Ravenscroft G, Wilkins MR, Cowley MJ, Pinese M; Titin Research Consortium; Phadke R, Davis MR, Muntoni F, Oates EC. Coppens S, et al. Among authors: krishnakumar d. Ann Neurol. 2025 Apr;97(4):611-628. doi: 10.1002/ana.27087. Epub 2025 Jan 24. Ann Neurol. 2025. PMID: 39853809 Free PMC article.
59 results