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Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Helman G, et al. Among authors: bonkowsky jl. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
SARS-CoV-2 Infection and Increased Risk for Pediatric Stroke.
Vielleux MJ, Swartwood S, Nguyen D, James KE, Barbeau B, Bonkowsky JL. Vielleux MJ, et al. Among authors: bonkowsky jl. Pediatr Neurol. 2023 May;142:89-94. doi: 10.1016/j.pediatrneurol.2022.10.003. Epub 2022 Nov 20. Pediatr Neurol. 2023. PMID: 36418211 Free PMC article.
The burden of inherited leukodystrophies in children.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. Bonkowsky JL, et al. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21. Neurology. 2010. PMID: 20660364 Free PMC article.
The leukodystrophies.
Gordon HB, Letsou A, Bonkowsky JL. Gordon HB, et al. Among authors: bonkowsky jl. Semin Neurol. 2014 Jul;34(3):312-20. doi: 10.1055/s-0034-1386769. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192509 Review.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Van Haren K, et al. Among authors: bonkowsky jl. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27. Mol Genet Metab. 2015. PMID: 25577286
Shedding light on the leukodystrophies.
Bonkowsky JL. Bonkowsky JL. Dev Med Child Neurol. 2016 Jul;58(7):650-1. doi: 10.1111/dmcn.13019. Epub 2016 Feb 15. Dev Med Child Neurol. 2016. PMID: 26880156 Free article. No abstract available.
150 results