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2020 2
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2023 5
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Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).
Brima T, Freedman EG, Prinsloo KD, Augustine EF, Adams HR, Wang KH, Mink JW, Shaw LH, Mantel EP, Foxe JJ. Brima T, et al. J Neurodev Disord. 2024 Jan 6;16(1):3. doi: 10.1186/s11689-023-09515-8. J Neurodev Disord. 2024. PMID: 38183037 Free PMC article.
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): An auditory evoked potential study of the duration-evoked mismatch negativity (MMN).
Brima T, Freedman EG, Prinsloo KD, Augustine EF, Adams HR, Wang KH, Mink JW, Shaw LH, Mantel EP, Foxe JJ. Brima T, et al. Res Sq [Preprint]. 2023 Aug 17:rs.3.rs-3203894. doi: 10.21203/rs.3.rs-3203894/v1. Res Sq. 2023. PMID: 37645970 Free PMC article. Updated. Preprint.
Data sharing to advance gene-targeted therapies in rare diseases.
Lekstrom-Himes J, Augustine EF, Brower A, Defay T, Finkel RS, McGuire AL, Skinner MW, Yu TW. Lekstrom-Himes J, et al. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):87-98. doi: 10.1002/ajmg.c.32028. Epub 2023 Jan 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 36594517
Experimental Neurotherapeutics: Surfing the Tidal Wave of New Opportunities.
Reoma LB, Busza A, Mouradian MM, Kaufmann P, Augustine EF, Frank S, Sutula TP, Cole AJ, Fitter HD, Meurer W, Nath A, Griggs RC. Reoma LB, et al. Ann Neurol. 2023 Mar;93(3):427-430. doi: 10.1002/ana.26582. Epub 2023 Jan 16. Ann Neurol. 2023. PMID: 36546649 Free PMC article.
Approaches to the Assessment of Clinical Benefit of Treatments for Conditions That Have Heterogeneous Symptoms and Impacts: Potential Applications in Rare Disease.
Murray LT, Howell TA, Matza LS, Eremenco S, Adams HR, Trundell D, Coons SJ; Rare Disease Subcommittee of the Patient-Reported Outcome Consortium. Murray LT, et al. Value Health. 2023 Apr;26(4):547-553. doi: 10.1016/j.jval.2022.11.012. Epub 2022 Nov 28. Value Health. 2023. PMID: 36455827 Free article. Review.
13 results