Mitochondrial diagnosis revisited
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference5 articles.
1. Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency;Kurian;Eur J Paediatr Neurol,2004
2. The genetic basis of DOORS syndrome: an exome-sequencing study;Campeau;Lancet Neurol,2014
3. TBC1D24 genotype-phenotype correlation. Epilepsy and other neurological features;Balestrini;Neurology,2016
4. Target exome sequencing for mitochondrial disorders reveals high genetic heterogeneity;DaRe;BMC Med Genet,2013
5. Coenzyme Q10 defects maybe associated with a deficiency of Q10- independent mitochondrial respiratory chain complex;Fragaki;Biol Res,2016
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene;Frontiers in Neurology;2020-08-07
2. Catalogue of inherited disorders found among the Irish Traveller population;Journal of Medical Genetics;2018-01-22
3. Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function;Clinical Genetics;2017-12-11
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