Published in Mitochondrion on December 16, 2010
Oxygen regulation of breathing through an olfactory receptor activated by lactate. Nature (2015) 0.94
Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias. Curr Neuropharmacol (2013) 0.78
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation. Cell Metab (2005) 5.61
Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet (2006) 4.67
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet (2004) 3.51
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain (2006) 2.98
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain (2005) 2.44
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet (2007) 2.40
In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. Cell Metab (2011) 2.33
Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial. Lancet Neurol (2010) 2.32
5-HT4(a) receptors avert opioid-induced breathing depression without loss of analgesia. Science (2003) 2.28
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet (2007) 2.18
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol (2002) 2.12
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet (2011) 2.10
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain (2013) 2.08
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med (2009) 2.06
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol (2004) 1.87
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet (2006) 1.87
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice. J Physiol (2007) 1.73
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (2005) 1.71
Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4. Proc Natl Acad Sci U S A (2011) 1.71
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta (2008) 1.66
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab (2006) 1.62
Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J (2005) 1.59
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet (2005) 1.58
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet (2012) 1.54
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet (2008) 1.54
Heteromeric HCN1-HCN4 channels: a comparison with native pacemaker channels from the rabbit sinoatrial node. J Physiol (2003) 1.54
Correction of respiratory disorders in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A (2010) 1.54
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2010) 1.53
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet (2005) 1.50
Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth. Respir Physiol Neurobiol (2009) 1.46
Interaction of the pacemaker channel HCN1 with filamin A. J Biol Chem (2004) 1.40
Idebenone treatment in Leber's hereditary optic neuropathy. Brain (2011) 1.39
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet (2008) 1.37
155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord (2007) 1.36
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem (2006) 1.33
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet (2006) 1.31
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30
Isolation of mitochondria for biogenetical studies: An update. Mitochondrion (2009) 1.30
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab (2009) 1.29
Disorders of nuclear-mitochondrial intergenomic signaling. Gene (2005) 1.29
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet (2012) 1.28
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet (2005) 1.27
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet (2007) 1.24
Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol (2003) 1.23
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. Adv Exp Med Biol (2012) 1.23
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta (2008) 1.22
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain (2008) 1.22
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med (2010) 1.18
Activation of XII motoneurons and premotor neurons during various oropharyngeal behaviors. Respir Physiol Neurobiol (2005) 1.16
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab (2005) 1.14
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain (2010) 1.14
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet (2006) 1.14
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet (2008) 1.13
Depletion of mtDNA: syndromes and genes. Mitochondrion (2006) 1.13
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet (2003) 1.12
Effects of riboflavin in children with complex II deficiency. Brain Dev (2006) 1.12
Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome. Respir Physiol Neurobiol (2009) 1.11
Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model. Respir Physiol Neurobiol (2007) 1.11
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain (2008) 1.10
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet (2004) 1.10
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal (2011) 1.10
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet (2009) 1.09
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord (2002) 1.08
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet (2009) 1.08
Serotonin targets inhibitory synapses to induce modulation of network functions. Philos Trans R Soc Lond B Biol Sci (2009) 1.07
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain (2007) 1.07
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat (2008) 1.06
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet (2008) 1.06
Spontaneous central apneas occur in the C57BL/6J mouse strain. Respir Physiol Neurobiol (2007) 1.05
The short N-terminus is required for functional expression of the virus-encoded miniature K(+) channel Kcv. FEBS Lett (2002) 1.05
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion (2007) 1.05
The role of serotonin in respiratory function and dysfunction. Respir Physiol Neurobiol (2010) 1.05
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol (2008) 1.04
Pontine respiratory activity involved in inspiratory/expiratory phase transition. Philos Trans R Soc Lond B Biol Sci (2009) 1.04
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol (2008) 1.03
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab (2012) 1.02
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med (2013) 1.02
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol (2002) 1.01
Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep (2007) 1.01