Page last updated: 2024-10-16

adenine and External Ophthalmoplegia

adenine has been researched along with External Ophthalmoplegia in 3 studies

Research Excerpts

ExcerptRelevanceReference
"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."1.56Identification 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)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Sommerville, EW1
Dalla Rosa, I1
Rosenberg, MM1
Bruni, F1
Thompson, K1
Rocha, M1
Blakely, EL1
He, L1
Falkous, G1
Schaefer, AM1
Yu-Wai-Man, P1
Chinnery, PF1
Hedstrom, L1
Spinazzola, A1
Taylor, RW1
Gorman, GS1
Traboulsi, EI1
Latkany, P1
Ciulla, TA1
Cacchillo, PF1
Malkoff, MD1

Other Studies

3 other studies available for adenine and External Ophthalmoplegia

ArticleYear
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
    Clinical genetics, 2020, Volume: 97, Issue:2

    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.
    Transactions of the American Ophthalmological Society, 2004, Volume: 102

    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.
    American journal of ophthalmology, 1999, Volume: 128, Issue:1

    Topics: Adenine; Atrophy; Deafness; DNA, Mitochondrial; Electroretinography; Female; Guanine; Humans; Macula

1999