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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A. Adang LA, et al. Among authors: bonkowsky jl. Cytotherapy. 2024 Apr 1:S1465-3249(24)00579-6. doi: 10.1016/j.jcyt.2024.03.487. Online ahead of print. Cytotherapy. 2024. PMID: 38613540
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A. Adang LA, et al. Among authors: bonkowsky jl. Mol Genet Metab. 2024 May;142(1):108453. doi: 10.1016/j.ymgme.2024.108453. Epub 2024 Mar 18. Mol Genet Metab. 2024. PMID: 38522179 Review.
Routine Neuroimaging of the Preterm Brain.
Hand IL, Shellhaas RA, Milla SS; COMMITTEE ON FETUS AND NEWBORN, SECTION ON NEUROLOGY, SECTION ON RADIOLOGY. Hand IL, et al. Pediatrics. 2020 Nov;146(5):e2020029082. doi: 10.1542/peds.2020-029082. Pediatrics. 2020. PMID: 33106343
Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease.
Herstine JA, Chang PK, Chornyy S, Stevenson TJ, Sunshine AC, Nokhrina K, Rediger J, Wentz J, Vetter TA, Scholl E, Holaway C, Pyne NK, Bratasz A, Yeoh S, Flanigan KM, Bonkowsky JL, Bradbury AM. Herstine JA, et al. Among authors: bonkowsky jl. Mol Ther. 2024 Mar 27:S1525-0016(24)00212-0. doi: 10.1016/j.ymthe.2024.03.034. Online ahead of print. Mol Ther. 2024. PMID: 38549375
Lithium: effects in animal models of vanishing white matter are not promising.
Witkamp D, Oudejans E, Hoogterp L, Hu-A-Ng GV, Glaittli KA, Stevenson TJ, Huijsmans M, Abbink TEM, van der Knaap MS, Bonkowsky JL. Witkamp D, et al. Among authors: bonkowsky jl. Front Neurosci. 2024 Jan 30;18:1275744. doi: 10.3389/fnins.2024.1275744. eCollection 2024. Front Neurosci. 2024. PMID: 38352041 Free PMC article.
Progress in leukodystrophies with zebrafish.
Shih HY, Raas Q, Bonkowsky JL. Shih HY, et al. Among authors: bonkowsky jl. Dev Growth Differ. 2024 Jan;66(1):21-34. doi: 10.1111/dgd.12907. Epub 2024 Jan 19. Dev Growth Differ. 2024. PMID: 38239149 Review.
HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.
Taylor DP, Heale BSE, Chisum B, Christensen GB, Wilcox DF, Banks KM, Tripp JS, Liu T, Ruesch JB, Sheffield TJ, Breinholt JW, Harward JC, Hakoda EC, May T, Bonkowsky JL, Walton NA, McLeod HL, Nadauld LD, Ranade-Kharkar P. Taylor DP, et al. Among authors: bonkowsky jl. AMIA Annu Symp Proc. 2024 Jan 11;2023:689-698. eCollection 2023. AMIA Annu Symp Proc. 2024. PMID: 38222332 Free PMC article.
145 results