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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Weihl CC, Töpf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez-González C, Alsaman A, Hernández-Laín A, Franco LV, Sanchez MEP, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V. Weihl CC, et al. Among authors: findlay ar. Acta Neuropathol. 2023 Jan;145(1):127-143. doi: 10.1007/s00401-022-02510-8. Epub 2022 Oct 20. Acta Neuropathol. 2023. PMID: 36264506 Free PMC article.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Bengoechea R, Findlay AR, Bhadra AK, Shao H, Stein KC, Pittman SK, Daw JA, Gestwicki JE, True HL, Weihl CC. Bengoechea R, et al. Among authors: findlay ar. J Clin Invest. 2020 Aug 3;130(8):4470-4485. doi: 10.1172/JCI136167. J Clin Invest. 2020. PMID: 32427588 Free PMC article.
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C, Findlay AR, Seiffert M, Peck A, Peck N, Johnson NE, Statland JM, Weihl CC. Ikenaga C, et al. Among authors: findlay ar. Orphanet J Rare Dis. 2020 Sep 29;15(1):267. doi: 10.1186/s13023-020-01551-0. Orphanet J Rare Dis. 2020. PMID: 32993728 Free PMC article.
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project. Findlay AR, et al. Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2. Ann Neurol. 2015. PMID: 25612243 Free PMC article.
20 results