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Year Number of Results
1999 2
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2007 3
2008 3
2009 2
2010 3
2011 4
2012 9
2013 6
2014 11
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169 results

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Page 1
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.
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 Free PMC article. 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.
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants.
Tieder JS, Bonkowsky JL, Etzel RA, Franklin WH, Gremse DA, Herman B, Katz ES, Krilov LR, Merritt JL 2nd, Norlin C, Percelay J, Sapién RE, Shiffman RN, Smith MB; SUBCOMMITTEE ON APPARENT LIFE THREATENING EVENTS. Tieder JS, et al. Among authors: bonkowsky jl. Pediatrics. 2016 May;137(5):e20160590. doi: 10.1542/peds.2016-0590. Epub 2016 Apr 25. Pediatrics. 2016. PMID: 27244835
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A. Dominguez Gonzalez CA, et al. Among authors: bonkowsky jl. Genet Med. 2025 Jul;27(7):101425. doi: 10.1016/j.gim.2025.101425. Epub 2025 Apr 5. Genet Med. 2025. PMID: 40202052 No abstract available.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: bonkowsky jl. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL. Gavazzi F, et al. Among authors: bonkowsky jl. Mol Genet Metab. 2025 Mar;144(3):109048. doi: 10.1016/j.ymgme.2025.109048. Epub 2025 Feb 1. Mol Genet Metab. 2025. PMID: 39951964
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.
On the edge-A diagnostic odyssey.
McLean H, Palmquist R, Nadauld LD, Malone Jenkins S, Bonkowsky J, Filloux F. McLean H, et al. Among authors: bonkowsky j. Clin Case Rep. 2022 Apr 7;10(4):e05688. doi: 10.1002/ccr3.5688. eCollection 2022 Apr. Clin Case Rep. 2022. PMID: 35425609 Free PMC article.
169 results