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

Year Number of Results
1988 1
1995 1
2005 1
2008 2
2010 2
2012 2
2013 5
2014 2
2015 6
2016 4
2017 13
2018 14
2019 18
2020 25
2021 20
2022 1
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Similar articles for PMID: 35017290

100 results
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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.
Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. Phadke R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1002-1013. doi: 10.1002/jimd.12234. Epub 2020 Apr 16. J Inherit Metab Dis. 2020. PMID: 32187699 Review.
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. Nilsson J, et al. Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963. Ann Neurol. 2013. PMID: 23798481 Free article.
Polyglucosan storage myopathies.
Hedberg-Oldfors C, Oldfors A. Hedberg-Oldfors C, et al. Mol Aspects Med. 2015 Dec;46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13. Mol Aspects Med. 2015. PMID: 26278982 Review.
Update on new muscle glycogenosis.
Laforêt P, Malfatti E, Vissing J. Laforêt P, et al. Curr Opin Neurol. 2017 Oct;30(5):449-456. doi: 10.1097/WCO.0000000000000484. Curr Opin Neurol. 2017. PMID: 28737584 Review.
100 results