Publication & Citation Trends
Most Cited Works
1,489
Publications
256 total
Model systems informing mechanisms and drug discovery: a review of POLG-related disease models
Cited by 0
Semantic Scholar
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders
Cited by 2
Semantic Scholar
RePOWER: An International, Prospective, Non‐Interventional Registry of Patients With Primary Mitochondrial Myopathy
Cited by 0
Semantic Scholar
Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease
Cited by 1
Semantic Scholar
Effect of acipimox on skeletal muscle biochemistry, structure and function in older people with probable sarcopenia: an experimental medicine study OA
Cited by 1
Semantic Scholar
Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology OA
Cited by 4
Semantic Scholar
Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease
Cited by 5
Semantic Scholar
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder OA
Cited by 3
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(154)
Metabolism and Genetic Disorders
(105)
ATP Synthase and ATPases Research
(41)
Genetic Neurodegenerative Diseases
(40)
Genomics and Rare Diseases
(16)
Frequent Co-Authors
Affiliations
University College Dublin
National Health Service
York Hospital
United States Department of Veterans Affairs
University of Arizona