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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 4
2008 1
2009 4
2010 1
2012 2
2013 1
2014 3
2015 1
2017 1
2018 2
2019 2
2020 2
2022 3
2023 4
2024 0

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24 results

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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. Among authors: bengoechea r. 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.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Inoue M, Noguchi S, Inoue YU, Iida A, Ogawa M, Bengoechea R, Pittman SK, Hayashi S, Watanabe K, Hosoi Y, Sano T, Takao M, Oya Y, Takahashi Y, Miyajima H, Weihl CC, Inoue T, Nishino I. Inoue M, et al. Among authors: bengoechea r. Acta Neuropathol. 2023 Feb;145(2):235-255. doi: 10.1007/s00401-022-02530-4. Epub 2022 Dec 13. Acta Neuropathol. 2023. PMID: 36512060
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. Among authors: bengoechea r. 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.
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. Among authors: bengoechea r. Nat Commun. 2018 Dec 17;9(1):5342. doi: 10.1038/s41467-018-07718-5. Nat Commun. 2018. PMID: 30559338 Free PMC article.
24 results