Hypoxia and connectivity in the developing vertebrate nervous system

by Joshua L. Bonkowsky, Jong-Hyun Son
Published 2018-12-01

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

by Anna Sivachenko, Hannah B. Gordon, Suzanne S. Kimball, Erin J. Gavin, Joshua L. Bonkowsky, Anthea Letsou
Published 2016-04-01

Author’s Response to “Classifying Hypomyelination: A Critical (white) Matter” From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causati...

by Veronica M. Urbik MS, Marilyn Schmiedel BS, Haille Soderholm BA, Joshua L. Bonkowsky MD, PhD
Published 2020-12-01

Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies

by Veronica M. Urbik MS, Marilyn Schmiedel BS, Haille Soderholm BA, Joshua L. Bonkowsky MD, PhD
Published 2020-07-01

Autism Spectrum Disorder and Neonatal Serum Magnesium Levels in Preterm Infants

by Amanda V. Bakian PhD, Deborah A. Bilder MD, E. Kent Korgenski MS, Joshua L. Bonkowsky MD, PhD
Published 2018-09-01

Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study.

by Jay G Berry, Annapurna Poduri, Joshua L Bonkowsky, Jing Zhou, Dionne A Graham, Chelsea Welch, Heather Putney, Rajendu Srivastava
Published 2012-01-01

Development, Implementation, and Use of a Neurology Therapeutics Committee

by Edward B. Clark MD, Russell J. Butterfield MD, PhD, Francis M. Filloux MD, Joshua L. Bonkowsky MD, PhD
Published 2019-02-01

Hypoxia disruption of vertebrate CNS pathfinding through ephrinB2 Is rescued by magnesium.

by Tamara J Stevenson, Tony Trinh, Cory Kogelschatz, Esther Fujimoto, Mark E Lush, Tatjana Piotrowski, Cameron J Brimley, Joshua L Bonkowsky
Published 2012-01-01

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

by Christopher J Lambert, Briana C Freshner, Arlen Chung, Tamara J Stevenson, D Miranda Bowles, Raheel Samuel, Bruce K Gale, Joshua L Bonkowsky
Published 2018-01-01

Zebrafish foxP2 zinc finger nuclease mutant has normal axon pathfinding.

by Lingyan Xing, Kazuyuki Hoshijima, David J Grunwald, Esther Fujimoto, Tyler S Quist, Jacob Sneddon, Chi-Bin Chien, Tamara J Stevenson, Joshua L Bonkowsky
Published 2012-01-01

Chiari I Malformation Causing Developmental Regression in a 4 Month Old

by Elizabeth S. Doll MD, Joshua L. Bonkowsky MD, PhD, Laura L. Brown MD, Adam H. de Havenon MD, Douglas L. Brockmeyer MD, Tiffany S. Glasgow MD, Denise C. Morita MD
Published 2014-11-01

Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response

by Matthew D Keefe, Haille E Soderholm, Hung-Yu Shih, Tamara J Stevenson, Kathryn A Glaittli, D Miranda Bowles, Erika Scholl, Samuel Colby, Samer Merchant, Edward W Hsu, Joshua L Bonkowsky
Published 2020-12-01

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

by April A. Dukes, Qing Bai, Victor S. Van Laar, Yangzhong Zhou, Vladimir Ilin, Christopher N. David, Zeynep S. Agim, Joshua L. Bonkowsky, Jason R. Cannon, Simon C. Watkins, Claudette M. St. Croix, Edward A. Burton, Sarah B. Berman
Published 2016-11-01

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

by Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Published 2021-07-01

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

by Rebecca L. Margraf PhD, Jacob Durtschi BS, Bryan Krock PhD, Tara M. Newcomb MS, Joshua L. Bonkowsky MD, PhD, Karl V. Voelkerding MD, Pinar Bayrak-Toydemir MD, PhD, Richard E. Lutz MD, Kathryn J. Swoboda MD
Published 2018-07-01

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

by Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshua L. Bonkowsky, Christian C. Yost, Lorenzo D. Botto, Justin Jenkins, Theodore J. Pysher, Pinar Bayrak‐Toydemir, Rong Mao
Published 2019-07-01