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Year Number of Results
2013 1
2014 2
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2017 2
2018 5
2019 6
2020 3
2021 1
2022 5
2023 3
2024 0

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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.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B. Palmio J, et al. Neuromuscul Disord. 2020 Jan;30(1):38-46. doi: 10.1016/j.nmd.2019.11.005. Epub 2019 Nov 19. Neuromuscul Disord. 2020. PMID: 31955980 Free PMC article.
A metastable subproteome underlies inclusion formation in muscle proteinopathies.
Ciryam P, Antalek M, Cid F, Tartaglia GG, Dobson CM, Guettsches AK, Eggers B, Vorgerd M, Marcus K, Kley RA, Morimoto RI, Vendruscolo M, Weihl CC. Ciryam P, et al. Acta Neuropathol Commun. 2019 Dec 3;7(1):197. doi: 10.1186/s40478-019-0853-9. Acta Neuropathol Commun. 2019. PMID: 31796104 Free PMC article.
22 results