Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 89


Dopaminergic Co-Regulation of Locomotor Development and Motor Neuron Synaptogenesis is Uncoupled by Hypoxia in Zebrafish.

Son JH, Stevenson TJ, Bowles MD, Scholl EA, Bonkowsky JL.

eNeuro. 2020 Jan 30. pii: ENEURO.0355-19.2020. doi: 10.1523/ENEURO.0355-19.2020. [Epub ahead of print]


Disparities in Pediatric Epilepsy Remission Are Associated With Race and Ethnicity.

Gregerson CHY, Bakian AV, Wilkes J, Knighton AJ, Nkoy F, Sweney M, Filloux FM, Bonkowsky JL.

J Child Neurol. 2019 Dec;34(14):928-936. doi: 10.1177/0883073819866623. Epub 2019 Sep 10.


A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event.

Merritt JL 2nd, Quinonez RA, Bonkowsky JL, Franklin WH, Gremse DA, Herman BE, Jenny C, Katz ES, Krilov LR, Norlin C, Sapién RE, Tieder JS.

Pediatrics. 2019 Aug;144(2). pii: e20184101. doi: 10.1542/peds.2018-4101.


Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R.

Mol Genet Genomic Med. 2019 Jul;7(7):e00796. doi: 10.1002/mgg3.796. Epub 2019 Jun 13.


Development, Implementation, and Use of a Neurology Therapeutics Committee.

Clark EB, Butterfield RJ, Filloux FM, Bonkowsky JL.

Child Neurol Open. 2019 Feb 14;6:2329048X19830473. doi: 10.1177/2329048X19830473. eCollection 2019. Erratum in: Child Neurol Open. 2019 Sep 29;6:2329048X19881550.


Association of Diagnosis of Leukodystrophy With Race and Ethnicity Among Pediatric and Adolescent Patients.

Bonkowsky JL, Wilkes J, Bardsley T, Urbik VM, Stoddard G.

JAMA Netw Open. 2018 Nov 2;1(7):e185031. doi: 10.1001/jamanetworkopen.2018.5031.


Hypoxia and connectivity in the developing vertebrate nervous system.

Bonkowsky JL, Son JH.

Dis Model Mech. 2018 Dec 12;11(12). pii: dmm037127. doi: 10.1242/dmm.037127. Review.


Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients.

Bonkowsky JL, Wilkes J, Shyr DC.

J Child Neurol. 2018 Dec;33(14):882-887. doi: 10.1177/0883073818798090. Epub 2018 Sep 28.


Autism Spectrum Disorder and Neonatal Serum Magnesium Levels in Preterm Infants.

Bakian AV, Bilder DA, Korgenski EK, Bonkowsky JL.

Child Neurol Open. 2018 Sep 18;5:2329048X18800566. doi: 10.1177/2329048X18800566. eCollection 2018.


Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.

Ostrander BEP, Butterfield RJ, Pedersen BS, Farrell AJ, Layer RM, Ward A, Miller C, DiSera T, Filloux FM, Candee MS, Newcomb T, Bonkowsky JL, Marth GT, Quinlan AR.

NPJ Genom Med. 2018 Aug 13;3:22. doi: 10.1038/s41525-018-0061-8. eCollection 2018.


Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ.

Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018.


The Midline Axon Crossing Decision Is Regulated through an Activity-Dependent Mechanism by the NMDA Receptor.

Gao J, Stevenson TJ, Douglass AD, Barrios JP, Bonkowsky JL.

eNeuro. 2018 Apr 17;5(2). pii: ENEURO.0389-17.2018. doi: 10.1523/ENEURO.0389-17.2018. eCollection 2018 Mar-Apr.


Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.

Ward A, Karren MA, Di Sera T, Miller C, Velinder M, Qiao Y, Filloux FM, Ostrander B, Butterfield R, Bonkowsky JL, Dere W, Marth GT.

J Clin Transl Sci. 2017 Dec;1(6):381-386. doi: 10.1017/cts.2017.311.


An automated system for rapid cellular extraction from live zebrafish embryos and larvae: Development and application to genotyping.

Lambert CJ, Freshner BC, Chung A, Stevenson TJ, Bowles DM, Samuel R, Gale BK, Bonkowsky JL.

PLoS One. 2018 Mar 15;13(3):e0193180. doi: 10.1371/journal.pone.0193180. eCollection 2018.


A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.

Strachan LR, Stevenson TJ, Freshner B, Keefe MD, Miranda Bowles D, Bonkowsky JL.

Hum Mol Genet. 2017 Sep 15;26(18):3600-3614. doi: 10.1093/hmg/ddx249.


Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium.

Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20.


Comprehensive population-based determination of pediatric multiple sclerosis health care costs.

Wright MA, Korgenski EK, Bardsley T, Bonkowsky JL, Candee MS.

Neurol Neuroimmunol Neuroinflamm. 2016 Dec 19;4(1):e314. doi: 10.1212/NXI.0000000000000314. eCollection 2017 Jan.


Transvection Arising from Transgene Interactions in Zebrafish.

Keefe MD, Bonkowsky JL.

Zebrafish. 2017 Feb;14(1):8-9. doi: 10.1089/zeb.2016.1312. Epub 2016 Oct 25.


A Novel Developmental Role for Dopaminergic Signaling to Specify Hypothalamic Neurotransmitter Identity.

Chen YC, Semenova S, Rozov S, Sundvik M, Bonkowsky JL, Panula P.

J Biol Chem. 2016 Oct 14;291(42):21880-21892. Epub 2016 Aug 18.


Live imaging of mitochondrial dynamics in CNS dopaminergic neurons in vivo demonstrates early reversal of mitochondrial transport following MPP(+) exposure.

Dukes AA, Bai Q, Van Laar VS, Zhou Y, Ilin V, David CN, Agim ZS, Bonkowsky JL, Cannon JR, Watkins SC, Croix CM, Burton EA, Berman SB.

Neurobiol Dis. 2016 Nov;95:238-49. doi: 10.1016/j.nbd.2016.07.020. Epub 2016 Jul 22.


Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants: Executive Summary.

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.

Pediatrics. 2016 May;137(5). pii: e20160591. doi: 10.1542/peds.2016-0591. Epub 2016 Apr 25. No abstract available. Erratum in: Pediatrics. 2016 Aug;138(2):null. Pediatrics. 2019 Jul;144(1):.


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.

Pediatrics. 2016 May;137(5). pii: e20160590. doi: 10.1542/peds.2016-0590. Epub 2016 Apr 25. Erratum in: Pediatrics. 2016 Aug;138(2):.


A toolbox to study epidermal cell types in zebrafish.

Eisenhoffer GT, Slattum G, Ruiz OE, Otsuna H, Bryan CD, Lopez J, Wagner DS, Bonkowsky JL, Chien CB, Dorsky RI, Rosenblatt J.

J Cell Sci. 2017 Jan 1;130(1):269-277. doi: 10.1242/jcs.184341. Epub 2016 May 5.


Temporal Dysynchrony in brain connectivity gene expression following hypoxia.

Milash B, Gao J, Stevenson TJ, Son JH, Dahl T, Bonkowsky JL.

BMC Genomics. 2016 May 4;17:334. doi: 10.1186/s12864-016-2638-x.


Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects.

Helman G, Bonkowsky JL, Vanderver A.

JAMA Neurol. 2016 Jun 1;73(6):621-2. doi: 10.1001/jamaneurol.2016.0168. No abstract available.


Neonatal Magnesium Levels Between 24 and 48 Hours of Life and Outcomes for Epilepsy and Motor Impairment in Premature Infants.

Ostrander B, Bardsley T, Korgenski EK, Greene T, Bonkowsky JL.

Pediatr Neurol. 2016 Jun;59:41-6. doi: 10.1016/j.pediatrneurol.2016.02.012. Epub 2016 Mar 3.


Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases.

Sivachenko A, Gordon HB, Kimball SS, Gavin EJ, Bonkowsky JL, Letsou A.

Dis Model Mech. 2016 Apr;9(4):377-87. doi: 10.1242/dmm.022244. Epub 2016 Feb 18.


Shedding light on the leukodystrophies.

Bonkowsky JL.

Dev Med Child Neurol. 2016 Jul;58(7):650-1. doi: 10.1111/dmcn.13019. Epub 2016 Feb 15. No abstract available.


Motor Behavior Mediated by Continuously Generated Dopaminergic Neurons in the Zebrafish Hypothalamus Recovers after Cell Ablation.

McPherson AD, Barrios JP, Luks-Morgan SJ, Manfredi JP, Bonkowsky JL, Douglass AD, Dorsky RI.

Curr Biol. 2016 Jan 25;26(2):263-269. doi: 10.1016/j.cub.2015.11.064. Epub 2016 Jan 7.


Transgenic FingRs for Live Mapping of Synaptic Dynamics in Genetically-Defined Neurons.

Son JH, Keefe MD, Stevenson TJ, Barrios JP, Anjewierden S, Newton JB, Douglass AD, Bonkowsky JL.

Sci Rep. 2016 Jan 5;6:18734. doi: 10.1038/srep18734.


Recognition and Management of Acute Flaccid Myelitis in Children.

Nelson GR, Bonkowsky JL, Doll E, Green M, Hedlund GL, Moore KR, Bale JF Jr.

Pediatr Neurol. 2016 Feb;55:17-21. doi: 10.1016/j.pediatrneurol.2015.10.007. Epub 2015 Oct 20.


Hypothalamic radial glia function as self-renewing neural progenitors in the absence of Wnt/β-catenin signaling.

Duncan RN, Xie Y, McPherson AD, Taibi AV, Bonkowsky JL, Douglass AD, Dorsky RI.

Development. 2016 Jan 1;143(1):45-53. doi: 10.1242/dev.126813. Epub 2015 Nov 24.


A Serotonin Circuit Acts as an Environmental Sensor to Mediate Midline Axon Crossing through EphrinB2.

Xing L, Son JH, Stevenson TJ, Lillesaar C, Bally-Cuif L, Dahl T, Bonkowsky JL.

J Neurosci. 2015 Nov 4;35(44):14794-808. doi: 10.1523/JNEUROSCI.1295-15.2015.


Costs of the diagnostic odyssey in children with inherited leukodystrophies.

Richards J, Korgenski EK, Srivastava R, Bonkowsky JL.

Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.


Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients.

Roundy LM, Filloux FM, Kerr L, Rimer A, Bonkowsky JL.

J Child Neurol. 2016 Mar;31(4):433-8. doi: 10.1177/0883073815597755. Epub 2015 Aug 5.


Targeted leukodystrophy diagnosis based on charges and yields for testing.

Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL.

Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.


Microfluidic-aided genotyping of zebrafish in the first 48 h with 100% viability.

Samuel R, Stephenson R, Roy P, Pryor R, Zhou L, Bonkowsky JL, Gale BK.

Biomed Microdevices. 2015 Apr;17(2):43. doi: 10.1007/s10544-015-9946-9.


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.

Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.


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.

Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.


Neonatal magnesium levels correlate with motor outcomes in premature infants: a long-term retrospective cohort study.

Doll E, Wilkes J, Cook LJ, Korgenski EK, Faix RG, Yoder BA, Srivastava R, Sherwin CM, Spigarelli MG, Clark EA, Bonkowsky JL.

Front Pediatr. 2014 Nov 5;2:120. doi: 10.3389/fped.2014.00120. eCollection 2014.


The leukodystrophies.

Gordon HB, Letsou A, Bonkowsky JL.

Semin Neurol. 2014 Jul;34(3):312-20. doi: 10.1055/s-0034-1386769. Epub 2014 Sep 5. Review.


Preventable Infections in Children with Leukodystrophy.

Anderson HM, Wilkes J, Korgenski EK, Pulsipher MA, Blaschke AJ, Hersh AL, Srivastava R, Bonkowsky JL.

Ann Clin Transl Neurol. 2014 May 1;1(5):370-374.


Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

Purnell SM, Bleyl SB, Bonkowsky JL.

Pediatr Neurol. 2014 Jun;50(6):608-11. doi: 10.1016/j.pediatrneurol.2014.01.051. Epub 2014 Feb 10.


Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ.

Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19.


Rapid and efficient zebrafish genotyping using PCR with high-resolution melt analysis.

Xing L, Quist TS, Stevenson TJ, Dahlem TJ, Bonkowsky JL.

J Vis Exp. 2014 Feb 5;(84):e51138. doi: 10.3791/51138.


Intrapartum magnesium sulfate and the potential for cardiopulmonary drug-drug interactions.

Campbell SC, Stockmann C, Balch A, Clark EA, Kamyar M, Varner M, Korgenski EK, Bonkowsky JL, Spigarelli MG, Sherwin CM.

Ther Drug Monit. 2014 Aug;36(4):544-8. doi: 10.1097/FTD.0000000000000050.


Chiari I Malformation Causing Developmental Regression in a 4 Month Old.

Doll ES, Bonkowsky JL, Brown LL, de Havenon AH, Brockmeyer DL, Glasgow TS, Morita DC.

Glob Pediatr Health. 2014 Nov 21;1:2333794X14560819. doi: 10.1177/2333794X14560819. eCollection 2014. No abstract available.


Maternal magnesium sulphate exposure predicts neonatal magnesium blood concentrations.

Sherwin CM, Balch A, Campbell SC, Fredrickson J, Clark EA, Varner M, Stockmann C, Korgenski EK, Bonkowsky JL, Spigarelli MG.

Basic Clin Pharmacol Toxicol. 2014 Apr;114(4):318-22. doi: 10.1111/bcpt.12166. Epub 2013 Dec 11.


National variation in costs and mortality for leukodystrophy patients in US children's hospitals.

Brimley CJ, Lopez J, van Haren K, Wilkes J, Sheng X, Nelson C, Korgenski EK, Srivastava R, Bonkowsky JL.

Pediatr Neurol. 2013 Sep;49(3):156-162.e1. doi: 10.1016/j.pediatrneurol.2013.06.006.

Supplemental Content

Loading ...
Support Center