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2013 1
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Page 1
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. 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.
Patient reported quality of life in limb girdle muscular dystrophy.
Kovalchick LV, Bates K, Statland J, Weihl C, Kang PB, Lowes LP, Mozaffar T, Straub V, Wicklund M, Heatwole C, Johnson NE. Kovalchick LV, et al. Neuromuscul Disord. 2022 Jan;32(1):57-64. doi: 10.1016/j.nmd.2021.11.002. Epub 2021 Nov 13. Neuromuscul Disord. 2022. PMID: 34961728 Free PMC article.
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, Morelli FF, Carra S, Weihl CC, Bergink S, Gestwicki JE, Kampinga HH. Meister-Broekema M, et al. Nat Commun. 2018 Dec 17;9(1):5342. doi: 10.1038/s41467-018-07718-5. Nat Commun. 2018. PMID: 30559338 Free PMC article.
26 results