PubRank

Douglass M Turnbull

Author PubWeight™ 164.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006 6.52
2 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
3 Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008 4.72
4 Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest 2003 3.84
5 Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010 3.73
6 Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2007 3.14
7 Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002 2.88
8 Biochemical assays of respiratory chain complex activity. Methods Cell Biol 2007 2.56
9 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
10 The epidemiology of mitochondrial disorders--past, present and future. Biochim Biophys Acta 2004 2.41
11 Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology 2007 2.39
12 Mitochondrial DNA mutations and human disease. Biochim Biophys Acta 2009 2.24
13 Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol 2009 2.21
14 A neurological perspective on mitochondrial disease. Lancet Neurol 2010 2.16
15 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006 1.99
16 Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012 1.94
17 Mitochondrial DNA and survival after sepsis: a prospective study. Lancet 2005 1.85
18 Mitochondrial changes within axons in multiple sclerosis. Brain 2009 1.81
19 Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet 2004 1.76
20 Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 2015 1.75
21 Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. J Appl Physiol (1985) 2012 1.74
22 Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008 1.67
23 Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet 2002 1.65
24 Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab 2006 1.62
25 The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004 1.61
26 A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 2003 1.57
27 A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem 2007 1.56
28 ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007 1.55
29 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004 1.51
30 Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet 2005 1.50
31 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014 1.49
32 Nature of mitochondrial DNA deletions in substantia nigra neurons. Am J Hum Genet 2008 1.48
33 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet 2002 1.47
34 Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain 2002 1.43
35 Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation. Am J Respir Crit Care Med 2012 1.41
36 Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 2006 1.34
37 Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004 1.34
38 Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 2002 1.32
39 Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain 2010 1.27
40 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002 1.25
41 Maternally inherited mitochondrial DNA disease in consanguineous families. Eur J Hum Genet 2011 1.23
42 Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 2003 1.23
43 Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004 1.22
44 A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutat Res 2002 1.21
45 Mitochondrial DNA mutations and aging. Ann N Y Acad Sci 2007 1.16
46 Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Hum Genet 2006 1.16
47 A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J 2005 1.15
48 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet 2011 1.14
49 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 2007 1.13
50 Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat 2013 1.12
51 In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells. J Pathol 2011 1.12
52 Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Res 2008 1.11
53 Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle. J Appl Physiol (1985) 2013 1.10
54 Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscul Disord 2008 1.09
55 mtDNA mutations and common neurodegenerative disorders. Trends Genet 2005 1.07
56 The neurology of mitochondrial DNA disease. Lancet Neurol 2002 1.06
57 Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease. Stem Cells 2015 1.05
58 Clonal expansion in the human gut: mitochondrial DNA mutations show us the way. Cell Cycle 2006 1.02
59 Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death. Acta Neuropathol 2011 1.01
60 Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. Invest Ophthalmol Vis Sci 2010 0.99
61 Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann Neurol 2006 0.98
62 Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann Neurol 2004 0.96
63 Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Muscle Nerve 2005 0.96
64 Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012 0.96
65 Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J 2012 0.96
66 Neuropathological aspects of mitochondrial DNA disease. Neurochem Res 2004 0.94
67 Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations. J Pathol 2009 0.94
68 A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. J Neurol Sci 2010 0.93
69 Progressive depletion of mtDNA in mitochondrial myopathy. Neurology 2006 0.92
70 A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 2004 0.91
71 Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatr Res 2002 0.90
72 Changes in the human mitochondrial genome after treatment of malignant disease. Mutat Res 2003 0.90
73 Habitual physical activity in mitochondrial disease. PLoS One 2011 0.89
74 A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord 2003 0.89
75 Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet 2002 0.89
76 Relative rates of evolution in the coding and control regions of African mtDNAs. Mol Biol Evol 2007 0.89
77 The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy. Neuromuscul Disord 2002 0.89
78 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. Eur Heart J Cardiovasc Imaging 2012 0.89
79 Differences in the accumulation of mitochondrial defects with age in mice and humans. Mech Ageing Dev 2011 0.89
80 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 2010 0.88
81 The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. Biochem Biophys Res Commun 2010 0.88
82 Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Invest Ophthalmol Vis Sci 2010 0.88
83 LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet 2005 0.88
84 Human stem cell aging: do mitochondrial DNA mutations have a causal role? Aging Cell 2014 0.87
85 The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscul Disord 2007 0.87
86 Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 2002 0.87
87 A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. Mitochondrion 2011 0.87
88 Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity. Arch Neurol 2010 0.87
89 Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. Int J Cardiol 2013 0.87
90 Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation. Radiat Res 2006 0.86
91 Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study. J Neuropathol Exp Neurol 2013 0.86
92 Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons. Brain 2011 0.86
93 Strategies for treating disorders of the mitochondrial genome. Biochim Biophys Acta 2004 0.85
94 A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. Eur J Hum Genet 2004 0.84
95 Do organellar genomes function as long-term redox damage sensors? Trends Genet 2009 0.84
96 Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Res 2006 0.84
97 Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol 2013 0.83
98 Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions. Mol Brain 2011 0.83
99 Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. Hum Mol Genet 2010 0.83
100 Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Neuromuscul Disord 2012 0.83
101 Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. PLoS One 2013 0.83
102 The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci 2012 0.82
103 A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Disord 2002 0.82
104 Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. Eur J Hum Genet 2012 0.82
105 Experimental strategies towards treating mitochondrial DNA disorders. Biosci Rep 2007 0.82
106 Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res 2006 0.81
107 A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? Eur J Hum Genet 2008 0.81
108 Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle. Pediatr Res 2002 0.81
109 Searching for the needle in the Haystacks. Lancet 2009 0.80
110 Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease. Neuromuscul Disord 2004 0.80
111 Transcriptome analysis in mitochondrial disorders. Brain Res Bull 2011 0.79
112 Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree. Hum Genet 2004 0.79
113 A roundabout route to gene therapy. Nat Genet 2002 0.79
114 Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences. J Neurol 2013 0.79
115 Mitochondrial DNA transcription: regulating the power supply. Cell 2007 0.79
116 Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. Br J Ophthalmol 2012 0.78
117 Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells? Am J Physiol Endocrinol Metab 2007 0.78
118 Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. Biochem J 2007 0.78
119 A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009 0.78
120 Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking. Bioconjug Chem 2003 0.77
121 Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson disease. Am J Pathol 2013 0.77
122 Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. J Neurol Sci 2004 0.77
123 Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. J Neurol 2007 0.77
124 Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology 2013 0.77
125 Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature 2016 0.77
126 Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene. Neuromuscul Disord 2004 0.76
127 Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: link to colon cancer? Proc Natl Acad Sci U S A 2009 0.75
128 Neuromuscular disease presentation with three genetic defects involving two genomes. Neuromuscul Disord 2009 0.75
129 Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation. Muscle Nerve 2009 0.75
130 Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period. J Matern Fetal Neonatal Med 2006 0.75
131 Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone? Diabetes Care 2007 0.75
132 Investigation of the mitochondrial genome in patients with atypical motor neuron disease. J Neurol 2007 0.75
133 An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. Eur J Paediatr Neurol 2007 0.75
134 Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. J Peripher Nerv Syst 2013 0.75
135 Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired. Biochim Biophys Acta 2003 0.75
136 Detection of mitochondrial DNA variation in human cells. Methods Mol Biol 2010 0.75
137 Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia? J Neurol 2007 0.75
138 A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab 2003 0.75