James J Dowling

31PUBLICATIONS
147CO-AUTHORS
Molecular targetsNeurogeneticsGene and molecular therapyMechanobiologyLiquid biopsies
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Publications (31)

|Nov 07, 2026
Cross-species transcriptomic atlas of X-linked Myotubular Myopathy identifies unique, treatment responsive myofiber populations.

|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

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Frequent Collaborators

5 joint publications

Emanuela Pannia

3 joint publications

Ashish R Deshwar

3 joint publications

Lacramioara Fabian

3 joint publications

Mo Zhao