Molecular and cellular basis of genetically inherited skeletal muscle disorders
Dowling, James J., Weihl, Conrad C., Spencer, Melissa J.
Published in Nature reviews. Molecular cell biology (01.11.2021)
Published in Nature reviews. Molecular cell biology (01.11.2021)
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Journal Article
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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Journal Article
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.
Published in American journal of human genetics (07.01.2016)
Published in American journal of human genetics (07.01.2016)
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Journal Article
Tamoxifen therapy in a murine model of myotubular myopathy
Maani, Nika, Sabha, Nesrin, Rezai, Kamran, Ramani, Arun, Groom, Linda, Eltayeb, Nadine, Mavandadnejad, Faranak, Pang, Andrea, Russo, Giulia, Brudno, Michael, Haucke, Volker, Dirksen, Robert T., Dowling, James J.
Published in Nature communications (19.11.2018)
Published in Nature communications (19.11.2018)
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Journal Article
Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
Karolczak, Sophie, Deshwar, Ashish R, Aristegui, Evangelina, Kamath, Binita M, Lawlor, Michael W, Andreoletti, Gaia, Volpatti, Jonathan R, Ellis, Jillian L, Yin, Chunyue, Dowling, James J
Published in The Journal of clinical investigation (15.09.2023)
Published in The Journal of clinical investigation (15.09.2023)
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Journal Article
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy
Horstick, Eric J., Linsley, Jeremy W., Dowling, James J., Hauser, Michael A., McDonald, Kristin K., Ashley-Koch, Allison, Saint-Amant, Louis, Satish, Akhila, Cui, Wilson W., Zhou, Weibin, Sprague, Shawn M., Stamm, Demetra S., Powell, Cynthia M., Speer, Marcy C., Franzini-Armstrong, Clara, Hirata, Hiromi, Kuwada, John Y.
Published in Nature communications (04.06.2013)
Published in Nature communications (04.06.2013)
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Journal Article
Mouse model of severe recessive RYR1-related myopathy
Brennan, Stephanie, Garcia-Castañeda, Maricela, Michelucci, Antonio, Sabha, Nesrin, Malik, Sundeep, Groom, Linda, Wei LaPierre, Lan, Dowling, James J, Dirksen, Robert T
Published in Human molecular genetics (15.09.2019)
Published in Human molecular genetics (15.09.2019)
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Journal Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility
Endo, Yukari, Groom, Linda, Celik, Alper, Kraeva, Natalia, Lee, Chang Seok, Jung, Sung Yun, Gardner, Lois, Shaw, Marie-Anne, Hamilton, Susan L., Hopkins, Philip M., Dirksen, Robert T., Riazi, Sheila, Dowling, James J.
Published in Nature communications (13.06.2022)
Published in Nature communications (13.06.2022)
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Journal Article
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations
McMillan, Hugh J., Kernohan, Kristin D., Yeh, Ed, Amburgey, Kim, Boyd, Jennifer, Campbell, Craig, Dowling, James J., Gonorazky, Hernan, Marcadier, Janet, Tarnopolsky, Mark A., Vajsar, Jiri, MacKenzie, Alex, Chakraborty, Pranesh
Published in Canadian journal of neurological sciences (01.07.2021)
Published in Canadian journal of neurological sciences (01.07.2021)
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Journal Article
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance
Ribeiro, Inês, Yuan, Lin, Tanentzapf, Guy, Dowling, James J, Kiger, Amy
Published in PLoS genetics (01.02.2011)
Published in PLoS genetics (01.02.2011)
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Journal Article
Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
Fabian, Lacramioara, Dowling, James J.
Published in Frontiers in molecular neuroscience (09.07.2020)
Published in Frontiers in molecular neuroscience (09.07.2020)
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Journal Article
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
Lawal, Tokunbor A, Todd, Joshua J, Witherspoon, Jessica W, Bönnemann, Carsten G, Dowling, James J, Hamilton, Susan L, Meilleur, Katherine G, Dirksen, Robert T
Published in Skeletal muscle (16.11.2020)
Published in Skeletal muscle (16.11.2020)
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Journal Article
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology
Zabinyakov, Nikita, Bullivant, Garrett, Cao, Feng, Fernandez Ojeda, Matilde, Jia, Zheng Ping, Wen, Xiao-Yan, Dowling, James J, Salomons, Gajja S, Mercimek-Andrews, Saadet
Published in PloS one (20.10.2017)
Published in PloS one (20.10.2017)
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Journal Article
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation
Knox, Jessica, Burns, Andrew R., Cooke, Brittany, Cammalleri, Savina R., Kitner, Megan, Ching, Justin, Castelli, Jack M. P., Puumala, Emily, Snider, Jamie, Koury, Emily, Collins, J. B., Geissah, Salma, Dowling, James J., Andersen, Erik C., Stagljar, Igor, Cowen, Leah E., Lautens, Mark, Zasada, Inga, Roy, Peter J.
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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Journal Article
Natural history of a mouse model of X-linked myotubular myopathy
Sarikaya, Ege, Sabha, Nesrin, Volpatti, Jonathan, Pannia, Emanuela, Maani, Nika, Gonorazky, Hernan D, Celik, Alper, Liang, Yijng, Onofre-Oliveira, Paula, Dowling, James J
Published in Disease models & mechanisms (01.07.2022)
Published in Disease models & mechanisms (01.07.2022)
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Journal Article
Moving neuromuscular disorders research forward: from novel models to clinical studies
van Putten, Maaike, Hmeljak, Julija, Aartsma-Rus, Annemieke, Dowling, James J
Published in Disease models & mechanisms (01.02.2020)
Published in Disease models & mechanisms (01.02.2020)
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