Joanna Poulton
0000-0002-2460-5587
Publication & Citation Trends
Publications
0 total
Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations
Cited by 0
Semantic Scholar
Abstracts, UK Neuromuscular Translational Research Conference 2012 Oral presentationsThursday 22nd March 2012O02 Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations
Cited by 1
Semantic Scholar
Nuclear transfer to prevent mitochondrial DNA diseases. OA
Cited by 11
Semantic Scholar
Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. OA
Cited by 50
Semantic Scholar
Investigation of mitochondrial disease. OA
Cited by 8
Semantic Scholar
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
Cited by 37
Semantic Scholar
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA
Cited by 24
Semantic Scholar
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.
Cited by 39
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(215)
Metabolism and Genetic Disorders
(158)
ATP Synthase and ATPases Research
(60)
Genomics and Rare Diseases
(24)
Autophagy in Disease and Therapy
(22)
Affiliations
Florida State University
University of North Carolina at Chapel Hill
Oslo University Hospital
MACOM (United States)
Harvard University