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James T. Peterson

Observed names: J.T. Peterson, James Peterson, James T Peterson
ORCID: 0000-0002-0480-5709
Observed ORCID: 0000-0002-0480-5709
OpenAlex ID: A5009204076
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 52
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Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings
2020 · Fabrício Guimarães Gonçalves, César Augusto Pinheiro Ferreira Alves, et al. · Radiographics · 40
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations
2023 · C.A.P.F. Alves, A. Zandifar, et al. · American Journal of Neuroradiology · 34
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
2021 · Jing Wang, Jorune Balciuniene, et al. · Molecular Genetics and Metabolism · 27
Development of a Mitochondrial Myopathy‐Composite Assessment Tool
2021 · Jean Flickinger, Jiaxin Fan, et al. · JCSM Clinical Reports · 20
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Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life
2023 · Donna DiVito, Amanda Wellik, et al. · Neurotherapeutics · 10
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Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
2025 · Cesar A.P.F. Alves, Maria Camilla Rossi-Espagnet, et al. · American Journal of Neuroradiology · 4
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews
2025 · Elizabeth M. McCormick, James T. Peterson, et al. · Therapeutic Advances in Chronic Disease · 3
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
2025 · Jing Wang, James T. Peterson, et al. · Frontiers in Pharmacology · 3
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
2025 · Hana Antonicka, Woranontee Weraarpachai, et al. · The American Journal of Human Genetics · 2
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 2
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The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
2026 · Johan L.K. Van Hove, Marisa W. Friederich, et al. · medRxiv · 1
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MPV17-related mitochondrial DNA depletion syndrome with predominant neuropathic phenotype
2026 · Amit A. Shah, Joaquim Diego D. Santos, et al. · Therapeutic Advances in Rare Disease
Characterization of Large-Scale Mitochondrial DNA Rearrangements Using Complementary Short- and Long-Read Sequencing Approaches
2026 · Jing Wang, Joe Chan, et al. · Genes
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
2026 · Johan L K Van Hove, Marisa W Friederich, et al. · EMBO Molecular Medicine
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Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease
2026 · Melis Kose, Elizabeth McCormick, et al. · Disease Models & Mechanisms
Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease
2026 · Isaac Martin, Jean Flickinger, et al. · BMC Medicine
Reply:
2024 · Cesar A.P.F. Alves, Amy Goldstein, et al. · American Journal of Neuroradiology
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Abstract 17081: End Stage Mitochondrial Cardiomyopathy And Heart Transplantation Due To Pathogenic Biallelic C1QBP Variants
2021 · Nicholas S Wilcox, Stuart Prenner, et al. · Circulation
Contributors
2020 · Isabella Peixoto de Barcelos, Marni J. Falk, et al. · Elsevier eBooks
Works count: 20
Citation count: 198
H-index: 6
I10-index: 6
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