adenine has been researched along with External Ophthalmoplegia in 3 studies
Excerpt | Relevance | Reference |
---|---|---|
"Autosomal dominant progressive external ophthalmoplegia (adPEO) is a late-onset, Mendelian mitochondrial disorder characterised by paresis of the extraocular muscles, ptosis, and skeletal-muscle restricted multiple mitochondrial DNA (mtDNA) deletions." | 1.56 | Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. ( Blakely, EL; Bruni, F; Chinnery, PF; Dalla Rosa, I; Falkous, G; Gorman, GS; He, L; Hedstrom, L; Rocha, M; Rosenberg, MM; Schaefer, AM; Sommerville, EW; Spinazzola, A; Taylor, RW; Thompson, K; Yu-Wai-Man, P, 2020) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (33.33) | 18.2507 |
2000's | 1 (33.33) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 1 (33.33) | 2.80 |
Authors | Studies |
---|---|
Sommerville, EW | 1 |
Dalla Rosa, I | 1 |
Rosenberg, MM | 1 |
Bruni, F | 1 |
Thompson, K | 1 |
Rocha, M | 1 |
Blakely, EL | 1 |
He, L | 1 |
Falkous, G | 1 |
Schaefer, AM | 1 |
Yu-Wai-Man, P | 1 |
Chinnery, PF | 1 |
Hedstrom, L | 1 |
Spinazzola, A | 1 |
Taylor, RW | 1 |
Gorman, GS | 1 |
Traboulsi, EI | 1 |
Latkany, P | 1 |
Ciulla, TA | 1 |
Cacchillo, PF | 1 |
Malkoff, MD | 1 |
3 other studies available for adenine and External Ophthalmoplegia
Article | Year |
---|---|
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Topics: Adenine; Aged; Cells, Cultured; Cytochrome-c Oxidase Deficiency; DNA Replication; DNA, Mitochondrial | 2020 |
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
Topics: Adenine; Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Child, Preschool; Chromosome M | 2004 |
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.
Topics: Adenine; Atrophy; Deafness; DNA, Mitochondrial; Electroretinography; Female; Guanine; Humans; Macula | 1999 |