apnea has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 3 studies
Apnea: A transient absence of spontaneous respiration.
| Excerpt | Relevance | Reference |
|---|---|---|
| " We report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest." | 3.83 | KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. ( Applegate, C; Crawford, TO; Dean, S; Dollar, JD; Duis, J; Hamosh, A; Harper, A; He, W; Stafstrom, CE; Sun, LR; Waberski, MB; Xiao, R, 2016) |
| " A comparison of central nervous system signs in syndromic vs nonsyndromic mitochondrial diseases revealed significant differences in terms of headache, external ocular motility, and apnea (P < 0." | 3.76 | Clinical manifestations in children with mitochondrial diseases. ( Chen, LH; Chi, CS; Lee, HF; Lee, HJ; Tsai, CR, 2010) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ramachandran, S | 1 |
| Alessandri, A | 1 |
| Price, J | 1 |
| Balasubramaniam, S | 1 |
| Duis, J | 1 |
| Dean, S | 1 |
| Applegate, C | 1 |
| Harper, A | 1 |
| Xiao, R | 1 |
| He, W | 1 |
| Dollar, JD | 1 |
| Sun, LR | 1 |
| Waberski, MB | 1 |
| Crawford, TO | 1 |
| Hamosh, A | 1 |
| Stafstrom, CE | 1 |
| Chi, CS | 1 |
| Lee, HF | 1 |
| Tsai, CR | 1 |
| Lee, HJ | 1 |
| Chen, LH | 1 |
3 other studies available for apnea and Electron Transport Chain Deficiencies, Mitochondrial
| Article | Year |
|---|---|
Breath-holding spell and macrocytic anaemia in a toddler.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anemia, Macrocytic; Apnea; Child, Preschool; Congenital Bone Mar | 2014 |
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Topics: Apnea; Child, Preschool; Deglutition Disorders; Developmental Disabilities; Fatal Outcome; Female; F | 2016 |
Clinical manifestations in children with mitochondrial diseases.
Topics: Administration, Oral; Adolescent; Apnea; Cardiovascular Diseases; Child; Child, Preschool; Female; G | 2010 |