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James Peterson

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MS, LCGC

Children's Hospital of Philadelphia

United States

Research Interests

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Recent Grants

Grant: Close

Evaluating the Diagnostic Utility of Muscle Biopsy for Primary Mitochondrial Disease Evaluations in the Modern Era of Genomic Diagnostics (work ongoing)

Open Date: 2025-07-01

Close Date: 2026-06-01

Articles (8)

Year:

2026

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2025

Year:

2023

Year:

2023

Collaborators (2)

Piervito Lopriore

University Hospital of Pisa

ITALY

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Marni Falk

Assistant Professor

University of Pennsylvania

UNITED STATES

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James Peterson

Research Interests

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Recent Grants

Articles (8)

Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.

The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews

Neuroimaging patterns in patients with mitochondrial leukoencephalopathies.

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.

Collaborators (2)

Piervito Lopriore

Marni Falk

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