Published in Seizure on February 06, 2010
Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol (2011) 1.86
Alpers-Huttenlocher syndrome. Pediatr Neurol (2013) 1.44
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics (2013) 1.36
Mitochondrial genome maintenance in health and disease. DNA Repair (Amst) (2014) 1.08
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr (2013) 0.94
Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol (2013) 0.94
Defects of mitochondrial DNA replication. J Child Neurol (2014) 0.90
Treatment of mitochondrial disorders. Curr Treat Options Neurol (2014) 0.90
Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis (2013) 0.89
Human mitochondrial DNA replication machinery and disease. Curr Opin Genet Dev (2016) 0.82
Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS. Neurotherapeutics (2013) 0.82
Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics (2013) 0.82
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med (2011) 0.80
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. PLoS One (2012) 0.79
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia (2013) 0.79
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. JIMD Rep (2012) 0.78
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases. J Inherit Metab Dis (2013) 0.78
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae. Mitochondrion (2014) 0.77
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc (2016) 0.75
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75
Sea food consumption for improving cardiac and cerebral manifestations of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Ann Transl Med (2017) 0.75
Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase. Int J Mol Sci (2017) 0.75
The SANAD study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: an unblinded randomised controlled trial. Lancet (2007) 6.20
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol (2004) 2.88
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet (2001) 2.71
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
Mitochondrial disease: a practical approach for primary care physicians. Pediatrics (2007) 2.06
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain (2007) 1.85
Valproic acid hepatic fatalities: a retrospective review. Neurology (1987) 1.84
Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer. Mol Cell (2001) 1.65
Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol (1976) 1.46
Neuroimaging of mitochondrial disease. Mitochondrion (2008) 1.43
155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord (2007) 1.36
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain (2008) 1.10
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia (2008) 1.03
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet (2009) 1.02
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia (2008) 1.00
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Arch Dis Child (2008) 0.99
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr (1997) 0.97
Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features. Neuropediatrics (1986) 0.92
The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits. EMBO J (2007) 0.90
Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity. Ann Neurol (1992) 0.89
Juvenile Alpers disease. Arch Neurol (2008) 0.86
Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation. Neurology (2006) 0.84
Alpers syndrome with prominent white matter changes. Brain Dev (2007) 0.82
EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases. Brain Dev (1991) 0.82
Valproate monotherapy in 30 patients with partial seizures. Epilepsia (1988) 0.79
Treatment of partial seizures in childhood : an overview. CNS Drugs (2004) 0.78
Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua. Brain Dev (1996) 0.78
[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. Rev Neurol (2000) 0.78
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. Ann Neurol (1998) 0.77
Mitochondrial genetic background modifies breast cancer risk. Cancer Res (2007) 2.89
Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol (2003) 2.79
The GAAS metagenomic tool and its estimations of viral and microbial average genome size in four major biomes. PLoS Comput Biol (2009) 2.61
ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart. Cell Metab (2007) 2.14
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat (2008) 2.04
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics (2004) 1.95
G protein-coupled receptor kinase 4 gene variants in human essential hypertension. Proc Natl Acad Sci U S A (2002) 1.87
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86
AMPK dysregulation promotes diabetes-related reduction of superoxide and mitochondrial function. J Clin Invest (2013) 1.84
Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res (2002) 1.71
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A (2003) 1.66
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med (2009) 1.66
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem (2004) 1.62
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol (2013) 1.49
Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease. Ann N Y Acad Sci (2004) 1.48
Efficacy of intermediate-dose oral erythromycin on very low birth weight infants with feeding intolerance. Pediatr Neonatol (2012) 1.48
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC. Clin Chem (2007) 1.44
Alpers-Huttenlocher syndrome. Pediatr Neurol (2013) 1.44
Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease. J Mol Diagn (2005) 1.43
Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation. Invest Ophthalmol Vis Sci (2008) 1.42
Correction: Proteomic analysis of urine exosomes reveals renal tubule response to leptospiral colonization in experimentally infected rats. PLoS Negl Trop Dis (2015) 1.39
Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve (2008) 1.39
Monitoring phosphorylation of the pyruvate dehydrogenase complex. Anal Biochem (2009) 1.38
Molecular diagnosis of Alpers syndrome. J Hepatol (2006) 1.38
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab (2009) 1.35
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet (2011) 1.33
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A (2004) 1.30
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. Tex Heart Inst J (2013) 1.30
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell (2013) 1.25
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab (2012) 1.24
Serum and urine levels of interleukin-6 and interleukin-8 in children with acute pyelonephritis. Cytokine (2007) 1.23
Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol (2009) 1.22
Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem (2010) 1.22
Meeting report: mitochondrial DNA and cancer epidemiology. Cancer Res (2007) 1.20
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. DNA Repair (Amst) (2005) 1.19
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet (2012) 1.17
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods (2010) 1.10
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med (2013) 1.07
Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin Chem (2012) 1.07
Mitochondria of highly metastatic breast cancer cell line MDA-MB-231 exhibits increased autophagic properties. Biochim Biophys Acta (2011) 1.05
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat (2004) 1.02
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med (2008) 1.02
Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse. Mitochondrion (2008) 1.01
Polymerase gamma disease through the ages. Dev Disabil Res Rev (2010) 1.01
Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational status. Cancer (2011) 1.00
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A (2009) 1.00
Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybrids. Ann N Y Acad Sci (2010) 1.00
Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol (2013) 0.99
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat (2013) 0.99
Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids. Biochim Biophys Acta (2009) 0.97
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol (2011) 0.97
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One (2010) 0.97
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord (2008) 0.97
Incidence of papilledema and obesity in children diagnosed with idiopathic ''benign'' intracranial hypertension: case series and review. J Child Neurol (2010) 0.96
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet (2007) 0.96
Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. BMC Cancer (2006) 0.96
Novel heteroplasmic frameshift and missense somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Genes Chromosomes Cancer (2003) 0.96
Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy. Cell Metab (2012) 0.95
Mitochondrial DNA coding and control region variants as genetic risk factors for type 2 diabetes. Diabetes (2012) 0.94
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol (2005) 0.93
Diagnostic approaches to apparent homozygosity. Genet Med (2012) 0.93
A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: Additive effects of genetic and environmental factors. J Clin Endocrinol Metab (2006) 0.93
RNAi-induced down-regulation of Mecp2 expression in the rat brain. Int J Dev Neurosci (2008) 0.92
Application of next generation sequencing to molecular diagnosis of inherited diseases. Top Curr Chem (2014) 0.92
Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med (2009) 0.92
Genotype and early development in Rett syndrome: the value of international data. Brain Dev (2005) 0.91
Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet (2008) 0.90
Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion. J Acquir Immune Defic Syndr (2003) 0.89
Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells. Antimicrob Agents Chemother (2008) 0.89
Somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Ann N Y Acad Sci (2004) 0.89
Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab (2004) 0.89
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion (2013) 0.88
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab (2012) 0.88
Mitochondrial DNA content varies with pathological characteristics of breast cancer. J Oncol (2011) 0.88
Role of reactive oxygen species in hyperadrenergic hypertension: biochemical, physiological, and pharmacological evidence from targeted ablation of the chromogranin a (Chga) gene. Circ Cardiovasc Genet (2010) 0.88
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab (2008) 0.88
Mitochondrial correlation microscopy and nanolaser spectroscopy - new tools for biophotonic detection of cancer in single cells. Technol Cancer Res Treat (2005) 0.87
Exercise intolerance due to cytochrome b mutation. Muscle Nerve (2010) 0.87
Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. J Child Neurol (2010) 0.87
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. Am J Med Genet A (2003) 0.87
SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat (2012) 0.87
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol (2005) 0.87
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod (2005) 0.86
Tissue-specific differences in mitochondrial DNA content in type 2 diabetes. Diabetes Res Clin Pract (2011) 0.86
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. Mol Genet Metab (2012) 0.86
Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. Mol Cancer Res (2004) 0.86
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. Am J Med Genet A (2006) 0.86
Mitochondrial DNA variants in the pathogenesis of type 2 diabetes - relevance of asian population studies. Rev Diabet Stud (2009) 0.86
Phaeohyphomycosis of the central nervous system caused by Exophiala dermatitidis in a 3-year-old immunocompetent host. J Child Neurol (2009) 0.85
Hearing loss in mitochondrial disorders. Ann N Y Acad Sci (2005) 0.85
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol Genet Metab (2011) 0.85
A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population. Mitochondrion (2010) 0.85
Crosstalk from non-cancerous mitochondria can inhibit tumor properties of metastatic cells by suppressing oncogenic pathways. PLoS One (2013) 0.84
Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol (2010) 0.84
Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab (2002) 0.83
A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent. Biotechnol Bioeng (2013) 0.83
Secondary erythromelalgia successfully treated with intravenous immunoglobulin. J Child Neurol (2011) 0.83