James J. Dowling

University of New Brunswick — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

65h-index14.6kcitations405works3.62yr avg
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Research Topics

Muscle Physiology and Disorders(115), Cardiomyopathy and Myosin Studies(85), Neurogenetic and Muscular Disorders Research(63), Cellular transport and secretion(60), Genomics and Rare Diseases(27)

Publications401 total

Metalwork Allergy Rates in Patients Following Scoliosis Corrective Surgery and Posterior Spinal Instrumentation: A Systematic Review
2025Open Access
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study
Genetics in Medicine·2025· 1 cited
74PDesign of a phase 1/2 study assessing the safety and preliminary efficacy of ASP2957 gene therapy for X-linked myotubular myopathy (XLMTM)
Neuromuscular Disorders·2025
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study
Therapeutic Advances in Rare Disease·2025Open Access
Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus
Neurology·2025
Variants in <i>DENND2B</i> are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Brain·2025· 1 citedOpen Access
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
Genome Medicine·2025· 8 citedOpen Access
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Journal of Neuromuscular Diseases·2025· 2 citedOpen Access
Contributors
Elsevier eBooks·2025
Congenital Myopathies
Elsevier eBooks·2025
Challenges of an active metabolite: The potential of disproportionate human exposure and the complex kinetics upon drug-drug interactions
Drug Metabolism and Pharmacokinetics·2025
Model-based exploration of parent-metabolite kinetics of MT-202: Nonclinical characterization and feasibility of clinical metabolite exposure prediction
Drug Metabolism and Pharmacokinetics·2025
Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus
Neurology·2025· 20 cited
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy
Neuromuscular Disorders·2025· 1 cited
Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
Skeletal Muscle·2025Open Access
microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy
Molecular Therapy — Nucleic Acids·2025· 1 citedOpen Access
X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model
EMBO Molecular Medicine·2025· 1 citedOpen Access
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
2025· 1 citedOpen Access
Exploring Integrin α5β1 as a Potential Therapeutic Target for Pulmonary Arterial Hypertension: Insights From Comprehensive Multicenter Preclinical Studies
Circulation·2025· 16 citedOpen Access
Characterization of a novel zebrafish model of <i>MTMR5</i>-associated Charcot-Marie-Tooth disease type 4B3
Brain Communications·2025· 2 citedOpen Access
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Frequent Co-authors

Carsten G. Bönnemann(9), Hernán Gonorazky(8), Alan H. Beggs(8), Nigel F. Clarke(6), Nigel G. Laing(5), Kathryn N. North(5), Francesco Muntoni(5), Ronald D. Cohn(5), Heinz Jungbluth(5), Kimberly Amburgey(5), Eva L. Feldman(5), Monkol Lek(4), Daniel G. MacArthur(4), Caroline A. Sewry(4), Enrico Bertini(4), Katherine D. Mathews(4), Beryl B. Cummings(3), A. Reghan Foley(3), Leigh B. Waddell(3), Sarah A. Sandaradura(3)