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

por Fabian, Lacramioara, Dowling, James J.
Publicado 2020

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

por Zhao, Mo, Maani, Nika, Dowling, James J.
Publicado 2018

Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance

por Ribeiro, Inês, Yuan, Lin, Tanentzapf, Guy, Dowling, James J., Kiger, Amy
Publicado 2011

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

por Smith, Sarah J., Horstick, Eric J., Davidson, Ann E., Dowling, James
Publicado 2015

Treating pediatric neuromuscular disorders: The future is now

por Dowling, James J., D. Gonorazky, Hernan, Cohn, Ronald D., Campbell, Craig
Publicado 2017

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

por van Putten, Maaike, Hmeljak, Julija, Aartsma-Rus, Annemieke, Dowling, James J.
Publicado 2020

Utility of metabolic screening in neurological presentations of infancy

por Djordjevic, Djurdja, Tsuchiya, Etsuko, Fitzpatrick, Megan, Sondheimer, Neal, Dowling, James J.
Publicado 2020

Force Measurement During Contraction to Assess Muscle Function in Zebrafish Larvae

por Sloboda, Darcée D., Claflin, Dennis R., Dowling, James J., Brooks, Susan V.
Publicado 2013

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

por Smith, Sarah J., Wang, Jeffrey C., Gupta, Vandana A., Dowling, James J.
Publicado 2017

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

por Qiu, Boyang, Ruston, Julie, Granzier, Henk, Justice, Monica J., Dowling, James J.
Publicado 2019

Kindlin-2 is required for myocyte elongation and is essential for myogenesis

por Dowling, James J, Vreede, Andrew P, Kim, Susie, Golden, Jeffrey, Feldman, Eva L
Publicado 2008

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

por Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Publicado 2017

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

por Smith, Lindsay, Fabian, Lacramioara, Al-Maawali, Almundher, Noche, Ramil R., Dowling, James J.
Publicado 2020

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

por Telfer, William R., Nelson, Darcee D., Waugh, Trent, Brooks, Susan V., Dowling, James J.
Publicado 2012

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

por Lawal, Tokunbor A., Wires, Emily S., Terry, Nancy L., Dowling, James J., Todd, Joshua J.
Publicado 2020

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

por Gibbs, Elizabeth M., Davidson, Ann E., Telfer, William R., Feldman, Eva L., Dowling, James J.
Publicado 2014

Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish

por Raeker, Maide Ö., Shavit, Jordan A., Dowling, James J., Michele, Daniel E., Russell, Mark W.
Publicado 2014

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

por Todd, Peter K., Ackall, Feras Y., Hur, Junguk, Sharma, Kush, Paulson, Henry L., Dowling, James J.
Publicado 2014

Biallelic LINE insertion mutation in HACD1 causing congenital myopathy

por Al Amrani, Fatema, Gorodetsky, Carolina, Hazrati, Lili-Naz, Amburgey, Kimberly, Gonorazky, Hernan D., Dowling, James J.
Publicado 2020

The expanding spectrum of neurological disorders of phosphoinositide metabolism

por Volpatti, Jonathan R., Al-Maawali, Almundher, Smith, Lindsay, Al-Hashim, Aqeela, Brill, Julie A., Dowling, James J.
Publicado 2019