Published in J Neurol on March 14, 2007
Myasthenia gravis: a population based epidemiological study in Cambridgeshire, England. J Neurol Neurosurg Psychiatry (1998) 1.60
Myasthenia gravis (MG): epidemiological data and prognostic factors. Ann N Y Acad Sci (2003) 1.37
Inhibition of mitochondrial Ca2+ uptake affects phasic release from motor terminals differently depending on external [Ca2+]. J Neurophysiol (2003) 1.04
[Misdiagnosis of mitochondrial myopathies: a study of 12 thymectomized patients]. Rev Neurol (Paris) (2006) 0.84
Mitochondrial dysfunction in myasthenia gravis. Report of a case. Arq Neuropsiquiatr (1989) 0.84
Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy. J Neurol Sci (1982) 0.83
Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). Electromyogr Clin Neurophysiol (2004) 0.82
Muscular fatigability in mitochondrial myopathies. An electrophysiological study. Electromyogr Clin Neurophysiol (1992) 0.82
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet (2006) 6.52
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet (2002) 6.02
Prevalence of mitochondrial DNA disease in adults. Ann Neurol (2008) 4.72
Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature (2010) 3.73
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res (2002) 2.88
What causes mitochondrial DNA deletions in human cells? Nat Genet (2008) 2.70
Biochemical assays of respiratory chain complex activity. Methods Cell Biol (2007) 2.56
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proc Natl Acad Sci U S A (2006) 2.42
The epidemiology of mitochondrial disorders--past, present and future. Biochim Biophys Acta (2004) 2.41
Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology (2007) 2.39
Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet (2012) 2.39
Mitochondrial DNA mutations and human disease. Biochim Biophys Acta (2009) 2.24
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Hum Pathol (2013) 2.18
A neurological perspective on mitochondrial disease. Lancet Neurol (2010) 2.16
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet (2006) 1.99
Treatment for mitochondrial disorders. Cochrane Database Syst Rev (2012) 1.94
Mitochondrial DNA and survival after sepsis: a prospective study. Lancet (2005) 1.85
Mitochondrial changes within axons in multiple sclerosis. Brain (2009) 1.81
Mitochondrial DNA and disease. J Pathol (2011) 1.81
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet (2004) 1.76
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol (2015) 1.75
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. J Appl Physiol (1985) (2012) 1.74
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest (2004) 1.71
Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain (2008) 1.67
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet (2002) 1.65
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab (2006) 1.62
The diagnosis of mitochondrial muscle disease. Neuromuscul Disord (2004) 1.61
Mitochondrial donation--how many women could benefit? N Engl J Med (2015) 1.61
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem (2007) 1.56
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain (2007) 1.55
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol (2004) 1.51
Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet (2005) 1.50
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain (2014) 1.49
Nature of mitochondrial DNA deletions in substantia nigra neurons. Am J Hum Genet (2008) 1.48
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet (2002) 1.47
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. J Neurol Neurosurg Psychiatry (2012) 1.46
Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies. J Am Coll Cardiol (2007) 1.43
Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain (2002) 1.43
Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation. Am J Respir Crit Care Med (2012) 1.41
Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA (2010) 1.40
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology (2010) 1.39
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet (2013) 1.37
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain (2006) 1.34
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. J Med Genet (2006) 1.34
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat (2011) 1.33
Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod (2002) 1.32
Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Hum Mutat (2009) 1.32
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain (2010) 1.27
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain (2010) 1.27
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet (2013) 1.27
Locating the stem cell niche and tracing hepatocyte lineages in human liver. Hepatology (2009) 1.25
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod (2006) 1.25
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet (2002) 1.25
Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease. Ann Rheum Dis (2010) 1.25
Maternally inherited mitochondrial DNA disease in consanguineous families. Eur J Hum Genet (2011) 1.23
Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol (2003) 1.23
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. J Neurol Neurosurg Psychiatry (2013) 1.23
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet (2004) 1.22