James J Dowling
30PUBLICATIONS
139CO-AUTHORS
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Publications (30)
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|Feb 18, 2026
AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.Emanuela Pannia, Rebecca Simonian, Nesrin Sabha
|Jul 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.Harsha Murthy, Ny Hoang, Jamie C Stark
|May 14, 2025
Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee.Maryam Oskoui, Tracie Anne Caller, Julie A Parsons
|Mar 11, 2025
Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3.Jordan Lindzon, Maia List, Salma Geissah
|Feb 24, 2025
X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model.Lily Huang, Rebecca Simonian, Michael A Lopez
|Dec 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Sarah U Morton, Gregory Costain, Courtney E French
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Frequent Collaborators
4 joint publications
Emanuela Pannia
3 joint publications
Ashish R Deshwar
3 joint publications
Lacramioara Fabian
3 joint publications
Mo Zhao
3 joint publications
Gregory Costain
2 joint publications
Stephen W Scherer
2 joint publications
Jamie Snider
2 joint publications
Jessica Knox
2 joint publications
Andrew R Burns
2 joint publications
Anna Szuto
