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Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Lindqvist J, Ma W, Li F, Hernandez Y, Kolb J, Kiss B, Tonino P, van der Pijl R, Karimi E, Gong H, Strom J, Hourani Z, Smith JE 3rd, Ottenheijm C, Irving T, Granzier H. Lindqvist J, et al. Among authors: smith je 3rd. Nat Commun. 2020 Jun 1;11(1):2699. doi: 10.1038/s41467-020-16526-9. Nat Commun. 2020. PMID: 32483185 Free PMC article.
Phosphodiesterase 9a Inhibition in Mouse Models of Diastolic Dysfunction.
Methawasin M, Strom J, Borkowski T, Hourani Z, Runyan R, Smith JE 3rd, Granzier H. Methawasin M, et al. Among authors: smith je 3rd. Circ Heart Fail. 2020 May;13(5):e006609. doi: 10.1161/CIRCHEARTFAILURE.119.006609. Epub 2020 May 18. Circ Heart Fail. 2020. PMID: 32418479 Free PMC article.
Titin mutations and muscle disease.
Kellermayer D, Smith JE 3rd, Granzier H. Kellermayer D, et al. Among authors: smith je 3rd. Pflugers Arch. 2019 May;471(5):673-682. doi: 10.1007/s00424-019-02272-5. Epub 2019 Mar 27. Pflugers Arch. 2019. PMID: 30919088 Free PMC article. Review.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: smith je 3rd. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
23 results