Published in Ann Neurol on January 01, 2004
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Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases. Exp Mol Med (2010) 0.77
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Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PLoS One (2014) 0.75
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A mitochondrial protein compendium elucidates complex I disease biology. Cell (2008) 13.51
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
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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
Machinery for protein sorting and assembly in the mitochondrial outer membrane. Nature (2003) 3.46
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
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Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection. Proc Natl Acad Sci U S A (2007) 2.84
Levels of human Fis1 at the mitochondrial outer membrane regulate mitochondrial morphology. J Cell Sci (2004) 2.78
What causes mitochondrial DNA deletions in human cells? Nat Genet (2008) 2.70
Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain (2003) 2.59
Biochemical assays of respiratory chain complex activity. Methods Cell Biol (2007) 2.56
Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller. Mol Cell (2006) 2.46
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
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MiD49 and MiD51, new components of the mitochondrial fission machinery. EMBO Rep (2011) 2.26
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Four decades of opposing natural and human-induced artificial selection acting on Windermere pike (Esox lucius). Ecol Lett (2007) 2.23
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. J Mol Biol (2006) 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
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development. Dev Cell (2008) 2.15
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet (2010) 2.07
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
Essential role of Isd11 in mitochondrial iron-sulfur cluster synthesis on Isu scaffold proteins. EMBO J (2005) 1.92
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva. J Biol Chem (2008) 1.88
Understanding mitochondrial complex I assembly in health and disease. Biochim Biophys Acta (2011) 1.86
Mitochondrial DNA and survival after sepsis: a prospective study. Lancet (2005) 1.85
Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol Cell Biol (2007) 1.82
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
The ideal free pike: 50 years of fitness-maximizing dispersal in Windermere. Proc Biol Sci (2006) 1.74
RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetes. J Am Soc Nephrol (2009) 1.72
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
Assembly of mitochondrial complex I and defects in disease. Biochim Biophys Acta (2008) 1.67
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Dissection of the mitochondrial import and assembly pathway for human Tom40. J Biol Chem (2005) 1.66
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Mitochondrial protein-import machinery: correlating structure with function. Trends Cell Biol (2007) 1.64
The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery. Cell Signal (2011) 1.62
Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome. Curr Biol (2009) 1.62
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
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet (2008) 1.58
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
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain (2007) 1.55
Impaired folding of the mitochondrial small TIM chaperones induces clearance by the i-AAA protease. J Mol Biol (2012) 1.51
Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet (2012) 1.50
Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet (2005) 1.50
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50
Mitochondrial morphology and distribution in mammalian cells. Biol Chem (2006) 1.49
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