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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2020 | 1 |
2021 | 1 |
2024 | 1 |
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Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
EClinicalMedicine. 2024 Jan 25;68:102433. doi: 10.1016/j.eclinm.2024.102433. eCollection 2024 Feb.
EClinicalMedicine. 2024.
PMID: 38318125
Free PMC article.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG.
Bharucha-Goebel DX, et al. Among authors: biancavilla v.
Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179.
Brain. 2021.
PMID: 34114613
Free PMC article.
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, Chao KR, Verschuuren-Bemelmans CC, Horber V, Fock AJM, McCarty RM, Jain MS, Biancavilla V, McMacken G, Nalls M, Voermans NC, Elbendary HM, Snyder M, Cai C, Lehky TJ, Stanley V, Iannaccone ST, Foley AR, Lochmüller H, Gleeson J, Houlden H, Haack TB, Horvath R, Bönnemann CG.
Donkervoort S, et al. Among authors: biancavilla v.
Am J Med Genet A. 2020 Oct;182(10):2272-2283. doi: 10.1002/ajmg.a.61765. Epub 2020 Aug 10.
Am J Med Genet A. 2020.
PMID: 32776697
Free PMC article.
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