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Page 1
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Adang LA, et al. Among authors: bonkowsky jl. Mol Genet Metab. 2024 Aug;142(4):108521. doi: 10.1016/j.ymgme.2024.108521. Epub 2024 Jun 29. Mol Genet Metab. 2024. PMID: 38964050
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.
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 Jul;26(7):739-748. doi: 10.1016/j.jcyt.2024.03.487. Epub 2024 Apr 1. Cytotherapy. 2024. PMID: 38613540 Review.
Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy.
van Haren KP, Wilkes J, Moser AB, Raymond GV, Richardson T, Aubourg P, Collins TW, Mowry EM, Bonkowsky JL. van Haren KP, et al. Among authors: bonkowsky jl. Ann Child Neurol Soc. 2023 Jun;1(2):155-161. doi: 10.1002/cns3.4. Epub 2023 Apr 18. Ann Child Neurol Soc. 2023. PMID: 38966781 Free PMC article.
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
Death Causes Among Iranian Children With Leukodystrophies.
Shiva M, Hosseinpour S, Ashrafi MR, Heidari M, Rezaei Z, Zebardast J, Mohammadpour M, Bonkowsky JL, Tavasoli AR. Shiva M, et al. Among authors: bonkowsky jl. J Child Neurol. 2024 Nov 18:8830738241293171. doi: 10.1177/08830738241293171. Online ahead of print. J Child Neurol. 2024. PMID: 39558671
Factors impacting time to genetic diagnosis for children with epilepsy.
Rimmasch M, Wilson CA, Walton NA, Huynh K, Bonkowsky JL, Palmquist R. Rimmasch M, et al. Among authors: bonkowsky jl. Epilepsia Open. 2024 Dec;9(6):2495-2504. doi: 10.1002/epi4.13053. Epub 2024 Oct 28. Epilepsia Open. 2024. PMID: 39467089 Free PMC article.
155 results