thymine has been researched along with Leigh Disease in 4 studies
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| de Vries, DD | 1 |
| van Engelen, BG | 1 |
| Gabreëls, FJ | 1 |
| Ruitenbeek, W | 1 |
| van Oost, BA | 1 |
| Degoul, F | 1 |
| François, D | 1 |
| Diry, M | 1 |
| Ponsot, G | 1 |
| Desguerre, I | 1 |
| Héron, B | 1 |
| Marsac, C | 1 |
| Moutard, ML | 1 |
| Seller, A | 1 |
| Kennedy, CR | 1 |
| Temple, IK | 1 |
| Brown, GK | 1 |
| Chakrapani, A | 1 |
| Heptinstall, L | 1 |
| Walter, J | 1 |
4 other studies available for thymine and Leigh Disease
| Article | Year |
|---|---|
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
Topics: Base Sequence; Cytosine; DNA, Mitochondrial; Female; Humans; Leigh Disease; Male; Molecular Sequence | 1993 |
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
Topics: Child, Preschool; DNA, Mitochondrial; Female; Guanine; Humans; Leigh Disease; Mothers; Point Mutatio | 1997 |
Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA.
Topics: DNA, Mitochondrial; Fatal Outcome; Guanine; Humans; Infant, Newborn; Leigh Disease; Male; Point Muta | 1997 |
A family with Leigh syndrome caused by the rarer T8993C mutation.
Topics: Cytosine; DNA, Mitochondrial; Humans; Infant; Leigh Disease; Male; Point Mutation; Proton-Translocat | 1998 |