Minimum birth prevalence of mitochondrial respiratory chain disorders in children, Brain, vol.126, issue.8, pp.1905-1912, 2003. ,
DOI : 10.1093/brain/awg170
Tissue-specific differences in mitochondrial activity and biogenesis, Mitochondrion, vol.11, issue.1, pp.207-213, 2011. ,
DOI : 10.1016/j.mito.2010.09.011
Mitochondrial-Nuclear Communications, Annual Review of Biochemistry, vol.76, issue.1, pp.701-722, 2007. ,
DOI : 10.1146/annurev.biochem.76.052305.091720
Practical problems in detecting abnormal mitochondrial function and genomes. Human Reprod, pp.57-67, 2000. ,
A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria, Biochemical Journal, vol.57, issue.3, pp.441-446, 2011. ,
DOI : 10.1097/00008571-200303000-00004
URL : https://hal.archives-ouvertes.fr/hal-00561407
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations, Brain, vol.135, issue.5, pp.1387-1394, 2012. ,
DOI : 10.1093/brain/aws070
Mutations in the mitochondrial methionyl-tRNA synthetase casue a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans, Plos Biol, vol.10, pp.1-19, 2012. ,
Deleterious Mutation in the Mitochondrial Arginyl???Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia, The American Journal of Human Genetics, vol.81, issue.4, pp.857-862, 2007. ,
DOI : 10.1086/521227
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome, Proceedings of the National Academy of Sciences, vol.108, issue.16, pp.6543-6548, 2011. ,
DOI : 10.1073/pnas.1103471108
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome, The American Journal of Human Genetics, vol.92, issue.4, pp.614-620, 2013. ,
DOI : 10.1016/j.ajhg.2013.03.007
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy, The American Journal of Human Genetics, vol.88, issue.5, pp.635-642, 2011. ,
DOI : 10.1016/j.ajhg.2011.04.006
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome, The American Journal of Human Genetics, vol.88, issue.2, pp.193-200, 2011. ,
DOI : 10.1016/j.ajhg.2010.12.010
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy, Human Molecular Genetics, vol.21, issue.20, pp.4521-4529, 2012. ,
DOI : 10.1093/hmg/dds294
URL : http://hmg.oxfordjournals.org/cgi/content/short/21/20/4521
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YASR2, causes myopathy, lactic acidosis, and sideroblastic anemia -MLASA syndrome, Am J Hum Genet, vol.97, pp.1-8, 2010. ,
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA): MISSENSE MUTATION IN THE PSEUDOURIDINE SYNTHASE 1 (PUS1) GENE IS ASSOCIATED WITH THE LOSS OF tRNA PSEUDOURIDYLATION, Journal of Biological Chemistry, vol.280, issue.20, pp.19823-19828, 2005. ,
DOI : 10.1074/jbc.M500216200
The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases, Annual Review of Genomics and Human Genetics, vol.9, issue.1, pp.87-107, 2008. ,
DOI : 10.1146/annurev.genom.9.081307.164204
HAPLOFIND: A New Method for High-Throughput mtDNA Haplogroup Assignment, Human Mutation, vol.85, issue.Database issue, pp.1189-1194, 2013. ,
DOI : 10.1002/humu.22356
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis, Neuromuscular Disorders, vol.17, issue.4, pp.276-284, 2007. ,
DOI : 10.1016/j.nmd.2006.12.010
Biochemical Assays of Respiratory Chain Complex Activity, Methods Cell Biol, vol.80, pp.93-119, 2007. ,
DOI : 10.1016/S0091-679X(06)80004-X
Simultaneous Detection and Quantification of Mitochondrial DNA Deletion(s), Depletion, and Over-Replication in Patients with Mitochondrial Disease, The Journal of Molecular Diagnostics, vol.7, issue.5, pp.613-622, 2005. ,
DOI : 10.1016/S1525-1578(10)60595-8
Crystal Structure of Human Mitochondrial Tyrosyl-tRNA Synthetase Reveals Common and Idiosyncratic Features, Structure, vol.15, issue.11, pp.1505-1516, 2007. ,
DOI : 10.1016/j.str.2007.09.018
URL : https://hal.archives-ouvertes.fr/hal-00199322
Regulation of mitochondrial biogenesis during myogenesis, Molecular and Cellular Endocrinology, vol.315, issue.1-2, pp.113-120, 2010. ,
DOI : 10.1016/j.mce.2009.09.029
URL : https://hal.archives-ouvertes.fr/hal-00547658
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1, Human Molecular Genetics, vol.15, issue.11, pp.1835-1846, 2006. ,
DOI : 10.1093/hmg/ddl106
Metabolic control of mitochondrial biogenesis through the PGC-1 family regulatory network, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1813, issue.7, pp.1269-1278, 2011. ,
DOI : 10.1016/j.bbamcr.2010.09.019
Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number, Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, vol.1819, issue.9-10, pp.921-929 ,
DOI : 10.1016/j.bbagrm.2012.03.002
Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy, International Journal of Cardiology, vol.112, issue.2, pp.202-206, 2006. ,
DOI : 10.1016/j.ijcard.2005.09.008
Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete, Mitochondrion, vol.7, issue.5, pp.354-357, 2007. ,
DOI : 10.1016/j.mito.2007.06.002
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups, Human Molecular Genetics, vol.19, issue.17, pp.3343-3353, 2010. ,
DOI : 10.1093/hmg/ddq246
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1822, issue.8, pp.1216-1222 ,
DOI : 10.1016/j.bbadis.2012.04.014
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia, Human Mutation, vol.85, issue.8, pp.1201-1206, 2012. ,
DOI : 10.1002/humu.22098
Mitochondrial Transcription Is Regulated via an ATP ???Sensing??? Mechanism that Couples RNA Abundance to Respiration, Molecular Cell, vol.22, issue.3, pp.329-338, 2006. ,
DOI : 10.1016/j.molcel.2006.03.031
Initiation and Beyond: Multiple Functions of the Human Mitochondrial Transcription Machinery, Molecular Cell, vol.24, issue.6, pp.813-825, 2006. ,
DOI : 10.1016/j.molcel.2006.11.024
Origins and Consequences of Mitochondrial Variation in Vertebrate Muscle, Annual Review of Physiology, vol.65, issue.1, pp.177-201, 2003. ,
DOI : 10.1146/annurev.physiol.65.092101.142705