Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)

by Lacramioara Fabian, James J. Dowling, James J. Dowling, James J. Dowling
Published 2020-07-01

Moving neuromuscular disorders research forward: from novel models to clinical studies

by Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
Published 2020-02-01

Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.

by Inês Ribeiro, Lin Yuan, Guy Tanentzapf, James J Dowling, Amy Kiger
Published 2011-02-01

Utility of metabolic screening in neurological presentations of infancy

by Djurdja Djordjevic, Etsuko Tsuchiya, Megan Fitzpatrick, Neal Sondheimer, James J. Dowling
Published 2020-07-01

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

by Sarah J Smith, Jeffrey C Wang, Vandana A Gupta, James J Dowling
Published 2017-01-01

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

by Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling
Published 2019-09-01

De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.

by Lindsay Smith, Lacramioara Fabian, Almundher Al-Maawali, Ramil R Noche, James J Dowling
Published 2020-01-01

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

by Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd
Published 2020-05-01

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

by William R. Telfer, Darcee D. Nelson, Trent Waugh, Susan V. Brooks, James J. Dowling
Published 2012-05-01

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

by Elizabeth M. Gibbs, Ann E. Davidson, William R. Telfer, Eva L. Feldman, James J. Dowling
Published 2014-01-01

Membrane-myofibril cross-talk in myofibrillogenesis: lessons from the zebrafish

by Maide O Raeker, Jordan A Shavit, James J Dowling, Daniel E Michele, Mark W Russell
Published 2014-01-01

Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1

by Peter K. Todd, Feras Y. Ackall, Junguk Hur, Kush Sharma, Henry L. Paulson, James J. Dowling
Published 2014-01-01

The expanding spectrum of neurological disorders of phosphoinositide metabolism

by Jonathan R. Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A. Brill, James J. Dowling
Published 2019-08-01

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

by Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, James J. Dowling, Katherine G. Meilleur
Published 2018-03-01

Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure

by Kandice Fero, Sadie A. Bergeron, Eric J. Horstick, Hiba Codore, Grace H. Li, Fumihito Ono, James J. Dowling, Harold A. Burgess
Published 2014-02-01

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

by James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman
Published 2009-02-01

Two dynamin-2 genes are required for normal zebrafish development.

by Elizabeth M Gibbs, Ann E Davidson, Arden Trickey-Glassman, Carey Backus, Yu Hong, Stacey A Sakowski, James J Dowling, Eva L Feldman
Published 2013-01-01

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

by Jonathan R Volpatti, Yukari Endo, Jessica Knox, Linda Groom, Stephanie Brennan, Ramil Noche, William J Zuercher, Peter Roy, Robert T Dirksen, James J Dowling
Published 2020-03-01

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

by Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Published 2020-11-01

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.

by Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Published 2017-01-01