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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: davis mr. Ann Neurol. 2025 Jan 24. doi: 10.1002/ana.27087. Online ahead of print. Ann Neurol. 2025. PMID: 39853809
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP, Delatycki MB, Archibald AD, Tutty E, Caruana J, Halliday JL, Lewis S, McClaren BJ, Newson AJ, Dive L, Best S, Long JC, Braithwaite J, Downes MJ, Scuffham PA, Massie J, Barlow-Stewart K, Kulkarni A, Ruscigno A, Kanga-Parabia A, Rodrigues B, Bennetts BH, Ebzery C, Hunt C, Cliffe CC, Lee C, Azmanov D, King EA, Madelli EO, Zhang F, Ho G, Danos I, Liebelt J, Fletcher J, Kennedy J, Beilby J, Emery JD, McGaughran J, Marum JE, Scarff K, Fisk K, Harrison K, Boggs K, Giameos L, Fitzgerald L, Thomas L, Burnett L, Freeman L, Harris M, Berbic M, Davis MR, Cifuentes Ochoa M, Wallis M, Wall M, Chow MTM, Ferrie MM, Pachter N, Quayum N, Lang N, Kasi Pandy P, Casella R, Allcock RJN, Ong R, Edwards S, Sundercombe S, Jelenich S, Righetti S, Lunke S, Kaur S, Stock-Myer S, Eggers S, Walker SP, Theodorou T, Catchpool T, Clinch T, Roscioli T, Hardy T, Zhu Y, Fehlberg Z, Boughtwood TF, Laing NG; Mackenzie’s Mission Investigators; Mackenzie's Mission Investigators. Kirk EP, et al. Among authors: davis mr. N Engl J Med. 2024 Nov 21;391(20):1877-1889. doi: 10.1056/NEJMoa2314768. N Engl J Med. 2024. PMID: 39565987
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: davis mr. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
287 results