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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: lehman a. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Among authors: lehman a. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
The diagnostic performance of the Visitect Advanced Disease point-of-care CD4 platform: a pragmatic mixed-methods multisite validation, costing, and qualitative analysis.
Nalintya E, Sekar P, Namakula OL, Tadeo KK, Kwizera R, Apeduno L, Naluyima DR, Nanano R, Mujungu L, Lehman A, Adzemovic T, Amperiize M, Kavuma P, Kasone V, Fieberg A, Nerima P, Dai B, Meya DB, Boulware DR, Rajasingham R. Nalintya E, et al. Among authors: lehman a. J Acquir Immune Defic Syndr. 2024 Aug 19. doi: 10.1097/QAI.0000000000003505. Online ahead of print. J Acquir Immune Defic Syndr. 2024. PMID: 39159398
Discovery Phase Agrochemical Predictive Safety Assessment Using High Content In Vitro Data to Estimate an In Vivo Toxicity Point of Departure.
Bianchi E, Costa E, Harrill J, Deford P, LaRocca J, Chen W, Sutake Z, Lehman A, Pappas-Garton A, Sherer E, Moreillon C, Sriram S, Dhroso A, Johnson K. Bianchi E, et al. Among authors: lehman a. J Agric Food Chem. 2024 Jul 31;72(30):17099-17120. doi: 10.1021/acs.jafc.4c03094. Epub 2024 Jul 21. J Agric Food Chem. 2024. PMID: 39033510
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA, Sunder-Plassmann G, Jovanovic A, Brand E, West ML, Bichet DG, Pisani A, Nowak A, Torra R, Khan A, Azevedo O, Lehman A, Linhart A, Rutecki J, Giuliano JD, Krusinska E, Nordbeck P. Hughes DA, et al. Among authors: lehman a. J Inherit Metab Dis. 2024 Jul 19. doi: 10.1002/jimd.12771. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39031114
596 results