Showing 1 - 20 results of 29 for search 'James J Dowling', query time: 0.06s
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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
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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
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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
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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
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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
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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
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Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy by Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
Published 2023-04-01
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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy by Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling
Published 2023-09-01
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