adenine and Optic Atrophy, Hereditary, Leber
adenine has been researched along with Optic Atrophy, Hereditary, Leber in 3 studies
Optic Atrophy, Hereditary, Leber: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Research Excerpts
| Excerpt | Relevance | Reference |
|---|---|---|
| "This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression." | 1.34 | A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. ( Bettink-Remeijer, MW; de Coo, IF; Hendrickx, A; Hintzen, RQ; Maat-Kievit, A; Schoonderwoerd, KC; Sluiter, W; Smeets, HJ; Spruijt, L, 2007) |
| "We therefore suspected Leber's hereditary optic neuropathy (LHON) and thus performed a PCR analysis of the mitochondrial DNA." | 1.33 | [Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report]. ( Fujikawa, A; Honda, H; Ochi, M; Satoh, A; Tomita, I; Tsujihata, M, 2006) |
Research
Studies (3)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Kim, JY | 1 |
| Hwang, JM | 1 |
| Park, SS | 1 |
| Honda, H | 1 |
| Tsujihata, M | 1 |
| Ochi, M | 1 |
| Satoh, A | 1 |
| Tomita, I | 1 |
| Fujikawa, A | 1 |
| Spruijt, L | 1 |
| Smeets, HJ | 1 |
| Hendrickx, A | 1 |
| Bettink-Remeijer, MW | 1 |
| Maat-Kievit, A | 1 |
| Schoonderwoerd, KC | 1 |
| Sluiter, W | 1 |
| de Coo, IF | 1 |
| Hintzen, RQ | 1 |
Other Studies
3 other studies available for adenine and Optic Atrophy, Hereditary, Leber
| Article | Year |
|---|---|
Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.
Topics: Adenine; Adolescent; Child; Cytosine; DNA, Mitochondrial; Female; Humans; Male; Middle Aged; NADH De | 2002 |
[Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber's hereditary optic neuropathy: a case report].
Topics: Acute Disease; Adenine; Diagnosis, Differential; DNA, Mitochondrial; Guanine; Humans; Magnetic Reson | 2006 |
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
Topics: Adenine; Adult; DNA, Mitochondrial; Dystonia; Female; Guanine; Humans; MELAS Syndrome; Muscle Spasti | 2007 |