Douglass Turnbull

Douglass Turnbull's AcademicInfluence.com Rankings

Douglass Turnbull

Medical

#514

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#698

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Neurology

#50

World Rank

#91

Historical Rank

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Why Is Douglass Turnbull Influential?

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According to Wikipedia, Sir Douglass Matthew Turnbull is Professor of Neurology at Newcastle University, an Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust and a director of the Wellcome Trust Centre for Mitochondrial Research.

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Douglass Turnbull's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA (1999) (3096)
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease (2006) (1394)
Mitochondrial DNA mutations in human disease (2005) (788)
Ageing and Parkinson's disease: Why is advancing age the biggest risk factor?☆ (2014) (653)
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (2015) (640)
Mitochondrial diseases (2016) (588)
Mitochondrial DNA mutations and human disease. (2010) (578)
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. (2002) (562)
Prevalence of mitochondrial DNA disease in adults (2008) (557)
Leber hereditary optic neuropathy (2002) (533)
Mitochondrial DNA mutations in human colonic crypt stem cells. (2003) (530)
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. (1997) (454)
The epidemiology of pathogenic mitochondrial DNA mutations (2000) (435)
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (2003) (427)
Mitochondrial changes within axons in multiple sclerosis. (2009) (409)
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease (2010) (406)
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. (2008) (404)
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. (1991) (391)
The epidemiology of mitochondrial disorders--past, present and future. (2004) (389)
Multi-system neurological disease is common in patients with OPA1 mutations (2010) (384)
What causes mitochondrial DNA deletions in human cells? (2008) (375)
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. (1997) (371)
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. (2001) (361)
Mitochondrial defects in acute multiple sclerosis lesions (2008) (358)
Biochemical assays of respiratory chain complex activity. (2007) (358)
Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death (1999) (331)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary (2006) (329)
MITOCHONDRIAL FUNCTION IN PARKINSON'S DISEASE (1989) (329)
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. (2001) (320)
Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis (2011) (316)
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. (2002) (311)
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. (2014) (308)
The genetics and pathology of mitochondrial disease (2016) (307)
Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle (1998) (303)
Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. (2002) (288)
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. (2006) (287)
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. (1994) (278)
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. (2007) (274)
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. (2002) (273)
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations (2005) (262)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (2006) (261)
A neurological perspective on mitochondrial disease (2010) (260)
Mutations causing mitochondrial disease: What is new and what challenges remain? (2015) (245)
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. (2003) (244)
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? (2000) (244)
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease (2016) (239)
The distribution of mitochondrial activity in relation to optic nerve structure. (2002) (233)
Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. (2008) (233)
Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease (1991) (231)
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids (1997) (227)
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. (2006) (223)
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? (2002) (221)
The diagnosis of mitochondrial muscle disease (2004) (213)
Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia (2006) (213)
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. (1997) (205)
Risk of developing a mitochondrial DNA deletion disorder (2004) (200)
Denervation Causes Fiber Atrophy and Myosin Heavy Chain Co-Expression in Senescent Skeletal Muscle (2012) (198)
Epidemiology and treatment of mitochondrial disorders. (2001) (197)
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. (2004) (195)
Mitochondrial disease--its impact, etiology, and pathology. (2007) (190)
Recent Advances in Mitochondrial Disease. (2017) (189)
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management (2012) (186)
Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation. (2012) (184)
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. (2006) (183)
Mutations of the mitochondrial ND1 gene as a cause of MELAS (2004) (181)
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia (1983) (178)
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management (2013) (177)
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. (2004) (176)
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. (2013) (175)
Review: Mitochondria and disease progression in multiple sclerosis (2008) (173)
Mitochondrial DNA Depletion in Respiratory Chain–Deficient Parkinson Disease Neurons (2016) (172)
Can mitochondrial DNA mutations cause sperm dysfunction? (2002) (172)
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency (2004) (169)
The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. (2001) (169)
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation (2002) (168)
Mitochondrial DNA and survival after sepsis: a prospective study (2005) (168)
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. (1995) (166)
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. (2003) (165)
Random genetic drift determines the level of mutant mtDNA in human primary oocytes. (2001) (165)
Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells (2016) (164)
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. (2001) (164)
Locating the stem cell niche and tracing hepatocyte lineages in human liver (2009) (160)
Mitochondrial Diseases: Hope for the Future (2020) (159)
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. (1993) (159)
The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head (2004) (157)
Resistance training in patients with single, large-scale deletions of mitochondrial DNA. (2008) (155)
New treatments for mitochondrial disease—no time to drop our standards (2013) (155)
Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease. (2001) (154)
Peptide nucleic acid delivery to human mitochondria (1999) (152)
Treatment for mitochondrial disorders. (2012) (152)
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina (1999) (151)
Mitochondrial Dysfunction in Parkinson’s Disease—Cause or Consequence? (2019) (148)
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy (2016) (148)
Mitochondrial DNA Mutations in Disease, Aging, and Neurodegeneration (2008) (148)
The neurology of mitochondrial DNA disease (2002) (146)
Analysis of European mtDNAs for recombination. (2001) (145)
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance (2014) (144)
Acute fatty liver of pregnancy and long‐chain 3‐hydroxyacyl–coenzyme A dehydrogenase deficiency (1994) (144)
Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement (2006) (143)
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? (2001) (141)
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease (2018) (141)
Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age (2001) (140)
Effects of physical activity and age on mitochondrial function. (1996) (139)
Reversal of a mitochondrial DNA defect in human skeletal muscle (1997) (138)
Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis. (2011) (137)
Nature of mitochondrial DNA deletions in substantia nigra neurons. (2008) (136)
The spectrum of hearing loss due to mitochondrial DNA defects. (2000) (136)
Late‐onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene (2000) (134)
Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons (2015) (133)
Mitochondrial disease in adults: A scale to monitor progression and treatment (2006) (133)
Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death (2011) (132)
Combined enzyme defect of mitochondrial fatty acid oxidation. (1992) (129)
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. (2006) (126)
Nuclear genes and mitochondrial translation: a new class of genetic disease. (2005) (126)
Mitochondrial DNA and disease (2012) (126)
Clinical mitochondrial genetics (1999) (124)
Sequence variation in mitochondrial complex I genes: mutation or polymorphism? (2005) (123)
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. (1984) (120)
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing (2014) (120)
Deficiency of respiratory chain complex I is a common cause of leigh disease (1996) (117)
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. (1999) (114)
Mitochondrial DNA analysis: polymorphisms and pathogenicity (1999) (113)
Nonrandom tissue distribution of mutant mtDNA. (1999) (112)
Serum anticonvulsant concentrations and the risk of drug induced skin eruptions. (1984) (110)
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations (2010) (110)
Very long‐chain acyl coenzyme A dehydrogenase deficiency presenting with exercise‐induced myoglobinuria (1994) (109)
Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease? (2006) (109)
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast (2005) (108)
Clinical features, investigation, and management of patients with defects of mitochondrial DNA (1997) (107)
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations (2011) (107)
Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse (2006) (106)
Which drug for the adult epileptic patient: phenytoin or valproate? (1985) (104)
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis (2015) (104)
Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain (1989) (103)
The effects of valproate on intermediary metabolism in isolated rat hepatocytes and intact rats. (1983) (103)
Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells (2004) (102)
The antipsoriatic drug anthralin accumulates in keratinocyte mitochondria, dissipates mitochondrial membrane potential, and induces apoptosis through a pathway dependent on respiratory competent mitochondria (2005) (101)
Mitochondrial DNA mutations in the pathogenesis of human disease. (2000) (100)
Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity (2015) (100)
Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle (2013) (100)
Formation of mitochondrial‐derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system (2016) (99)
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. (1998) (99)
OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. (2009) (98)
Methods for study of normal and abnormal skeletal muscle mitochondria. (1988) (95)
Batteries not included: diagnosis and management of mitochondrial disease (2009) (95)
Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency (2016) (95)
Disease progression in patients with single, large-scale mitochondrial DNA deletions (2013) (95)
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene (2011) (93)
Genotypes from patients indicate no paternal mitochondrial DNA contribution (2003) (93)
Insulin action in cultured human myoblasts: contribution of different signalling pathways to regulation of glycogen synthesis. (1996) (92)
URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION (2009) (91)
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene (2001) (91)
Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study (2012) (91)
A comparison of phenytoin and valproate in previously untreated adult epileptic patients. (1982) (90)
Linking the Metabolic State and Mitochondrial DNA in Chronic Disease, Health, and Aging (2013) (90)
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England (2001) (90)
The ageing neuromuscular system and sarcopenia: a mitochondrial perspective (2016) (89)
Point mutations of the mtDNA control region in normal and neurodegenerative human brains. (2001) (88)
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (2007) (88)
The ageing mitochondrial genome (2007) (87)
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1991) (87)
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. (2007) (87)
Leigh disease associated with a novel mitochondrial DNA ND5 mutation (2002) (87)
Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis. (2005) (86)
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. (2018) (86)
The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease (2002) (85)
Mitochondrial abnormalities in ageing macular photoreceptors. (2001) (85)
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation (2008) (85)
Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome (1997) (84)
Variation in the calpain-10 gene affects blood glucose levels in the British population. (2002) (84)
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation (2005) (84)
Mitochondrial Nanotunnels (2017) (82)
Mitochondrial disease: genetics and management (2015) (82)
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets (2008) (81)
mtDNA mutations and common neurodegenerative disorders. (2005) (81)
A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues (2009) (81)
Mitochondrial DNA disease—molecular insights and potential routes to a cure (2014) (81)
Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions (2008) (81)
Endocrine disorders in mitochondrial disease☆ (2013) (80)
Mitochondrial DNA Mutations and Aging (2007) (80)
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors (2018) (80)
Treatment for mitochondrial disorders. (2006) (79)
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network (2019) (77)
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. (1991) (76)
A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells. (1993) (76)
In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells (2011) (76)
Somatic mitochondrial DNA mutations in adult-onset leukaemia (2003) (74)
Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease (2012) (74)
Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families. (2000) (73)
Mitochondrial and inflammatory changes in sporadic inclusion body myositis (2015) (73)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (73)
The Impact of Pathogenic Mitochondrial DNA Mutations on Substantia Nigra Neurons (2013) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. (1990) (71)
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population (1997) (71)
Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation (2004) (70)
Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts (2010) (70)
MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE (2007) (70)
Mitochondrial donation--how many women could benefit? (2015) (70)
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA (1996) (69)
Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency (1983) (68)
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. (1995) (68)
Ablation of cellular prion protein expression affects mitochondrial numbers and morphology. (2002) (68)
Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect (1996) (68)
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): A clinical, biochemical and molecular study (1991) (68)
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency (2005) (67)
Mitochondrial gene segregation in mammals: is the bottleneck always narrow? (1992) (67)
Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates (2017) (67)
Homoplasmy, heteroplasmy, and mitochondrial dystonia (2007) (66)
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation (2013) (65)
The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man. (1994) (65)
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. (2012) (65)
Age related mitochondrial degenerative disorders in humans (2008) (65)
Deficiency of complex II of the mitochondrial respiratory chain in late‐onset optic atrophy and ataxia (1996) (65)
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis (2004) (64)
Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain. (1993) (64)
The Challenges of Mitochondrial Replacement (2014) (63)
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. (1992) (62)
Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation (2009) (62)
Concise Reviews: Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease (2015) (62)
Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease (2013) (62)
Plasma concentrations of sodium valproate: Their clinical value (1983) (62)
Mitochondrial DNA deletion in “identical” twin brothers (2004) (62)
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees (2004) (61)
Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations (2012) (61)
Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene (2009) (60)
Changes in the human mitochondrial genome after treatment of malignant disease. (2003) (60)
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. (2016) (60)
Mitochondrial DNA disease: new options for prevention. (2011) (59)
Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease (2015) (59)
Epilepsy in adults with mitochondrial disease: A cohort study (2015) (58)
Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells (2003) (58)
Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts (2010) (58)
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 (2009) (57)
Mitochondrial diabetes: investigation and identification of a novel mutation. (1998) (57)
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. (2010) (57)
The rise and rise of mitochondrial DNA mutations (2020) (57)
Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies (1988) (57)
The effects of 2[5(4-chlorophenyl)pentyl]oxirane-2-carbonyl-Co-A on mitochondrial oxidations. (1984) (56)
Motor neuron disease in a patient with a mitochondrial tRNAIle mutation (2006) (56)
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. (1998) (56)
Clonal Expansion in the Human Gut: Mitochondrial DNA Mutations Show Us the Way (2006) (55)
Neuropathological Aspects of Mitochondrial DNA Disease (2004) (55)
Hormonal and metabolic studies in a patient with a pheochromocytoma. (1980) (54)
Biochemical and Molecular Studies of Mitochondrial Function in Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness (1994) (53)
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency (2003) (53)
Mitochondrial DNA mutations and ageing. (2009) (53)
Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss (2020) (52)
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. (2002) (52)
Gene therapy for mitochondrial DNA defects: is it possible? (1995) (52)
CSF antigliadin antibodies and the Ramsay Hunt syndrome (1997) (52)
Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle (2014) (52)
A national perspective on prenatal testing for mitochondrial disease (2014) (52)
Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications (1993) (51)
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? (2012) (51)
African Haplogroup L mtDNA sequences show violations of clock-like evolution. (2004) (51)
Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility (2008) (51)
Timed interruption of insulin therapy in diabetic BB/E rat pregnancy: effect on maternal metabolism and fetal outcome. (1989) (51)
Pathogenic mitochondrial tRNA mutations – Which mutations are inherited and why? (2009) (51)
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia (2003) (50)
Consensus-based statements for the management of mitochondrial stroke-like episodes (2019) (50)
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution (2019) (49)
Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson disease. (2013) (49)
Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'. (2010) (49)
Quantification of mitochondrial DNA mutation load (2009) (48)
Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. (2010) (48)
Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons (2011) (47)
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults (2015) (47)
Alpha‐synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions (2009) (47)
Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations (2016) (47)
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. (2009) (47)
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. (1997) (47)
Progress in mitochondrial replacement therapies (2018) (46)
Study of Skeletal Muscle Mitochondrial Dysfunction (1993) (46)
Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons. (2012) (46)
Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number (2010) (46)
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. (1998) (46)
Measurement of the acyl-CoA intermediates of beta-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria. (1989) (46)
Diagnosis and Treatment of Mitochondrial Myopathies (2018) (46)
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation. (1992) (45)
Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. (2011) (45)
Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis (2020) (45)
Role of Mitochondrial DNA Mutations in Disease and Aging (2000) (45)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children (2008) (45)
The mitochondrial brain: From mitochondrial genome to neurodegeneration (2010) (45)
Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection. (1988) (45)
Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder (2000) (44)
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia (1997) (44)
Do mtDNA deletions drive premature aging in mtDNA mutator mice? (2009) (44)
International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease (2016) (43)
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions (2011) (43)
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy (2008) (43)
Treatment of Mitochondrial Disease (1997) (42)
Habitual Physical Activity in Mitochondrial Disease (2011) (42)
Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy (2012) (41)
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain (1995) (41)
Relative rates of evolution in the coding and control regions of African mtDNAs. (2007) (41)
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis (2016) (41)
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load (2018) (40)
Mitochondrial disease in adults: recent advances and future promise (2021) (40)
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease (2012) (40)
Valproate causes metabolic disturbance in normal man. (1986) (40)
Mitochondrial changes within axons in multiple sclerosis: an update. (2012) (40)
Mitochondrial DNA mutations affect calcium handling in differentiated neurons (2010) (40)
Increase in mitochondrial density within axons and supporting cells in response to demyelination in the Plp1 mouse model (2009) (39)
A high frequency of mtDNA polymorphisms in HeLa cell sublines. (2002) (39)
Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective. (2020) (39)
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load (2012) (39)
The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase. (1994) (38)
Respiratory chain deficiency in aged spinal motor neurons☆ (2014) (38)
Review: Central nervous system involvement in mitochondrial disease (2016) (38)
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease (2015) (38)
Mitochondrial function in muscle from elderly athletes (1997) (38)
Inhibition of glycogen synthase kinase-3 by insulin in cultured human skeletal muscle myoblasts. (1995) (38)
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy (2017) (37)
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. (2015) (37)
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease☆☆☆☆☆☆ (2013) (36)
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. (1995) (36)
Mitochondrial dysfunction in myofibrillar myopathy (2016) (36)
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia (1985) (36)
Mitochondrial DNA mutations in aging. (2014) (36)
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders. (1994) (36)
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease (2012) (36)
Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis (2012) (36)
The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase. (1992) (36)
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. (2015) (35)
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle (2014) (35)
Strategies for treating disorders of the mitochondrial genome. (2004) (35)
Selective impairments of mitochondrial respiratory chain activity during aging and ischemic brain damage. (1997) (35)
Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy. (1989) (35)
Human Insulin Receptor Substrate‐1: Variant Sequences in Familial Non‐insulin‐dependent Diabetes Mellitus (1996) (34)
Fatty Acid Oxidation in Peripheral Blood Cells: Characterization and Use for the Diagnosis of Defects of Fatty Acid Oxidation (1995) (34)
Human stem cell aging: do mitochondrial DNA mutations have a causal role? (2014) (34)
Mitochondrial involvement in the ageing process. Facts and controversies (1997) (34)
Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans (2014) (34)
Transmission of the human mitochondrial genome. (2000) (33)
Mitochondria and ageing (2000) (33)
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome (1999) (33)
OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS (2008) (32)
Metabolic changes in fed rats caused by chronic administration of ethyl 2[5(4-chlorophenyl)pentyl]oxirane-2-carboxylate, a new hypoglycaemic compound. (1984) (32)
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. (2010) (32)
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract (2001) (31)
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle (2018) (31)
Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells (2015) (31)
Redox control of beta-oxidation in rat liver mitochondria. (1994) (31)
Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells (2009) (31)
Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue (2014) (31)
Mitochondrial DNA deletions in muscle satellite cells: implications for therapies (2013) (31)
Research into Policy: A Brief History of Mitochondrial Donation (2015) (30)
Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood. (1998) (30)
Genetic counseling and prenatal diagnosis for mtDNA disease. (1998) (30)
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging (2020) (30)
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? (2008) (30)
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy (2007) (29)
Tetracyano-2,2-bipyridineiron(iii), an improved electron acceptor for the spectrophotometric assay of beta-oxidation and of succinate dehydrogenase in intact mitochondria. (1982) (29)
The mitochondrial ND 6 gene is a hot spot for mutations that cause Leber ’ s hereditary optic neuropathy (2000) (29)
Mitochondrial Mutations (1999) (29)
Differences in the accumulation of mitochondrial defects with age in mice and humans (2011) (29)
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction (2019) (29)
Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination (2016) (29)
Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo (2018) (29)
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers† (2012) (29)
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia (2013) (28)
Do organellar genomes function as long-term redox damage sensors? (2009) (28)
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy (2008) (28)
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy (2002) (28)
Mitochondrial Fatty Acid β-Oxidation in the Retinal Pigment Epithelium (2002) (28)
Experimental Strategies Towards Treating Mitochondrial DNA Disorders (2007) (28)
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. (2012) (28)
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency. (1987) (28)
Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation (2014) (27)
Pure myopathy associated with a novel mitochondrial tRNA gene mutation (2006) (27)
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study (2019) (27)
Dysferlin mutations and mitochondrial dysfunction (2016) (27)
Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues (2020) (27)
In-vitro genetic modification of mitochondrial function. (2000) (26)
An antigenomic strategy for treating heteroplasmic mtDNA disorders. (2001) (26)
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. (2010) (26)
Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking. (2003) (26)
The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons (2009) (26)
Causes of Death in Adults with Mitochondrial Disease. (2015) (26)
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. (2002) (26)
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy (2003) (26)
Genetic and biochemical intricacy shapes mitochondrial cytopathies (2016) (26)
Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition (2017) (25)
A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome (2004) (25)
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager (2006) (25)
Fatty acid oxidation defects in muscle. (1998) (25)
Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase. (1995) (25)
Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria. (1992) (25)
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions (2006) (25)
"Therapeutic" serum concentration of phenytoin: the influence of seizure type. (1984) (25)
Intramitochondrial control of the oxidation of hexadecanoate in skeletal muscle. A study of the acyl-CoA esters which accumulate during rat skeletal-muscle mitochondrial beta-oxidation of [U-14C]hexadecanoate and [U-14C]hexadecanoyl-carnitine. (1993) (25)
Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis (2005) (25)
A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle (1988) (25)
Mitochondrial donation: from test tube to clinic (2018) (24)
The comparative efficacy of antiepileptic drugs for partial and tonic-clonic seizures. (1985) (24)
The role of mitochondrial haplogroups in primary open angle glaucoma (2006) (23)
Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants (2006) (23)
Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions (2018) (23)
A double‐blind, placebo‐controlled, crossover study of verapamil in exertional muscle pain (1986) (23)
Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age (2016) (23)
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. (2012) (23)
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network (2019) (22)
Mitochondrial Donation - Which Women Could Benefit? (2019) (22)
Potential compounds for the treatment of mitochondrial disease. (2015) (22)
Increased activity of peroxisomal beta-oxidation in rat liver caused by ethyl 2(5(4-chlorophenyl)pentyl)-oxiran-2-carboxylate: an inhibitor of mitochondrial beta-oxidation. (1982) (22)
Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex (1989) (22)
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene (2004) (22)
Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions (2013) (22)
Inhibition of mitochondrial β-oxidation at the stage of carnitine palmitoyltransferase I by the coenzyme A esters of some substituted hypoglycaemic oxiran-2-carboxylic acids (1981) (22)
Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres (2003) (22)
GASTROINTESTINAL TRACT INVOLVEMENT ASSOCIATED WITH THE 3243A>G MITOCHONDRIAL DNA MUTATION (2008) (21)
Mitochondrial DNA deletions and depletion within paraspinal muscles (2012) (21)
RRM2B-Related Mitochondrial Disease (2013) (21)
The mitochondrial genome and mitochondrial muscle disorders. (2001) (21)
Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. (2002) (21)
A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy (2002) (20)
Scientific and Ethical Issues in Mitochondrial Donation (2018) (20)
Short-chain acyl-CoA dehydrogenase deficiency. (1990) (20)
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease (2015) (20)
Detection of mitochondrial DNA deletions in blood using the polymerase chain reaction: non‐invasive diagnosis of mitochondrial myopathy (1991) (19)
Assessment of mitochondrial respiratory chain enzymes in cells and tissues. (2020) (19)
Mitochondrial DNA Mutations in Individuals Occupationally Exposed to Ionizing Radiation (2006) (19)
Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients (2017) (19)
Mitochondrial disease in pregnancy: a systematic review (2011) (19)
Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts (2018) (19)
Mitochondrial Donation — Clearing the Final Regulatory Hurdle in the United Kingdom (2017) (19)
Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk (2019) (19)
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 (2002) (18)
Mitochondrial DNA and genetic disease. (2010) (18)
Neuronal oscillations: A physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases? (2016) (18)
Mitochondrial medicine. (1997) (18)
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients (2019) (18)
Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene (2004) (18)
Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation (2004) (18)
Maternally inherited mitochondrial DNA disease in consanguineous families (2011) (18)
The ischaemic lactate-ammonia test (2001) (18)
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy (2002) (18)
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England. (2016) (18)
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency (2017) (18)
Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. (2001) (17)
An essential guide to mtDNA maintenance (1998) (17)
An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase. (1993) (17)
Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates. (1984) (17)
Clinical Reasoning: Blurred vision and dancing feet (2009) (17)
[Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain]. (1989) (17)
Monitoring mitochondrial dynamics and complex I dysfunction in neurons: implications for Parkinson's disease. (2013) (17)
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression (2015) (17)
The measurement of mitochondrial beta-oxidation by release of 3H2O from [9,10-3H]hexadecanoate: application to skeletal muscle and the use of inhibitors as models of metabolic disease. (1992) (17)
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy (2016) (17)
Roles of Mitochondrial DNA Mutations in Stem Cell Ageing (2018) (16)
Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions (2001) (16)
Mitochondrial DNA mutations in disease and ageing. (2001) (16)
Defects of the respiratory chain. (1990) (16)
Forecasting stroke-like episodes and outcomes in mitochondrial disease (2021) (16)
Tissue specific defect of complex I of the mitochondrial respiratory chain. (1989) (16)
Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation (2007) (16)
Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation (2008) (16)
Mitochondrial DNA Transcription: Regulating the Power Supply (2007) (16)
Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations (2014) (15)
Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis (2006) (15)
Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry (2020) (15)
Molecular basis for treatment of mitochondrial myopathies (2000) (15)
Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities. (1988) (15)
A rapid fluorometric method for the determination of carnitine palmitoyltransferase. (1993) (15)
Transcriptome analysis in mitochondrial disorders (2012) (15)
Decreased male reproductive success in association with mitochondrial dysfunction (2017) (15)
8 Defects of the respiratory chain (1990) (14)
Expanding Our Understanding of mtDNA Deletions. (2016) (14)
No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis (2013) (14)
Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women (2018) (14)
Progressive depletion of mtDNA in mitochondrial myopathy (2006) (14)
Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to medium-chain acyl-CoA dehydrogenase deficiency. (1993) (14)
Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity. (2010) (14)
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle (2010) (14)
Insulin Sensitivity and Mitochondrial Gene Mutation (1995) (13)
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations (2002) (13)
Anorexia nervosa, liquorice and hypokalaemic myopathy. (1981) (13)
Insulin and Proinsulin Secretion in Subjects With Abnormal Glucose Tolerance and a Mitochondrial tRNALeu(UUR) Mutation (1995) (13)
Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. (2001) (13)
Systematic review of cognitive deficits in adult mitochondrial disease (2019) (13)
Impact of age on the association between cardiac high-energy phosphate metabolism and cardiac power in women (2017) (13)
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent‐onset POLG‐related mitochondrial disease (2018) (13)
Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy. (1988) (13)
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease (2017) (13)
Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. (2007) (12)
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. (1995) (12)
Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease (2015) (12)
The effect of valproate on blood metabolite concentrations in spontaneously diabetic, ketoacidotic, BB/E Wistar rats. (1985) (12)
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level (2019) (12)
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. (2013) (12)
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. (2003) (12)
The investigation of mitochondrial respiratory chain disease. (1995) (12)
Absence of immunoreactive enzyme protewin in short‐chain acylcoenzyme a dehydrogenase deficiency (1990) (12)
Mitochondrial Dysfunction in Neurodegenerative Disorders (2012) (12)
Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences (2013) (12)
Trials of verapamil and dantrolene sodium in McArdle disease. (1984) (12)
Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (12)
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls (2019) (11)
Inhibition of hepatic and skeletal muscle carnitine palmitoyltransferase I by 2[5(4-chlorophenyl)pentyl]-oxirane-2-carbonyl-CoA (1984) (11)
A roundabout route to gene therapy (2002) (11)
Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease (2021) (11)
Prevalence and severity of voice and swallowing difficulties in mitochondrial disease. (2012) (11)
Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study (2018) (11)
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation (2004) (11)
Disorders of the electron transport chain (1996) (11)
Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations (2018) (11)
Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease (2004) (11)
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy (2003) (11)
Immunocytochemical studies of cytochrome oxidase deficiencies in human skeletal muscle (1985) (11)
Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA−/− mice (2016) (11)
27 – Identification of Mitochondrial Dysfunction at Coupling Site II (1993) (11)
Localization of MRP‐1 to the outer mitochondrial membrane by the chaperone protein HSP90β (2016) (10)
The cytochemical determination of enzyme activities in single skeletal-muscle fibres from patients with a partial deficiency of cytochrome oxidase (1985) (10)
Vomiting, anorexia, and mitochondrial DNA disease (1998) (10)
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree (2004) (10)
Might mammalian mitochondria merge? (2001) (10)
Neuro-Sweet's disease (2012) (9)
Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase. (1992) (9)
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study (2018) (9)
Mitochondrial morphology and function: two for the price of one! (2020) (9)
Prevention of cognitive decline in ageing: dementia as the target, delayed onset as the goal (2011) (9)
6 Mitochondrial oxidations and ATP synthesis in muscle (1990) (9)
Diabetes and Deafness (2007) (9)
Do mitochondrial DNA mutations have a role in neurodegenerative disease? (2007) (9)
Methylene blue and fatal encephalopath y from ackee fruit poisoning (1999) (9)
HEPATIC PEROXISOMAL PROLIFERATION CAUSED BY ETHYL 2[5(4‐CHLORO‐PHENYL)PENTYL]OXIRAN‐2‐ CARBOXYLATE (CPOC): A HYPOGLYCEMIC INHIBITOR OF MITOCHONDRIAL FATTY ACID OXIDATION (1982) (8)
No evidence of an association between the T16189C mtDNA variant and late onset dementia (2004) (8)
SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects. (1998) (8)
Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency. (1991) (8)
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission (2021) (8)
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression (2021) (8)
Cognitive deficits in adult m.3243A>G‐ and m.8344A>G‐related mitochondrial disease: importance of correcting for baseline intellectual ability (2019) (8)
Mitochondrial myopathy with skeletal muscle cytochrome oxidase deficiency (1982) (8)
Apolipoprotein E and familial non-insulin-dependent diabetes mellitus (1994) (8)
Detection of mitochondrial DNA variation in human cells. (2010) (8)
Mitochondrial myopathies: defects in β-oxidation (1985) (8)
Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses (2020) (8)
Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease (2015) (7)
Cytochrome oxidase deficiency: Immunological studies of skeletal muscle mitochondrial fractions (1988) (7)
Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies (2020) (7)
Endocrine myopathies. (1983) (7)
Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells? (2008) (7)
Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease. (2020) (7)
A new biomarker for mitochondrial disease (2011) (7)
Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease (1999) (7)
Inherited defects of mitochondrial fatty acid oxidation. (1988) (7)
Mitochondrial oxidative enzyme activity in individual fibre types in hypo- and hyperthyroid rat skeletal muscles. (1984) (7)
Neuromuscular disease presentation with three genetic defects involving two genomes (2009) (7)
Peptide nucleic acid and delivery to human mitochondria (2000) (7)
The S20G islet-associated polypeptide gene mutation in familial NIDDM. (1997) (7)
Treatment for mitochondrial disorders (Review) (2009) (7)
Normal respiratory chain function in patients with low-tension glaucoma. (1996) (6)
The effects of valproate (2-n-propylpentanoate) on intermediate metabolism in isolated rat hepatocytes and intact rats (1983) (6)
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. (2007) (6)
OPA 1 Deficiency Associated with Increased Autophagy in Retinal Ganglion Cells in a Murine Model of Dominant Optic Atrophy (2009) (6)
The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease (2013) (6)
Interventions for promoting physical activity in people with neuromuscular disease (2020) (6)
Mitochondrial DNA mutations and pathogenicity. (1998) (6)
Analysis of mitochondrial DNA mutations : deletions. (2000) (6)
071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers (2012) (6)
Effects of MitoQ and Sod2 on Rates of Retinal Degeneration in Rd1, Atrd1, Rho–/– and Rds Mutant Mice (2006) (5)
Treatment for mitochondrial myopathy (2003) (5)
Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia? (2007) (5)
MOLECULAR BASIS OF MITOCHONDRIAL MYOPATHIES (1988) (5)
Biochemical Investigation of Muscle Disease (1989) (5)
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia (2012) (5)
Mitochondrial donation - hope for families with mitochondrial DNA disease. (2020) (5)
Mitochondrial oxidations and ATP synthesis in muscle. (1990) (5)
Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired. (2003) (5)
When to think about mitochondrial disease (2020) (5)
Mitochondrial respiratory chain deficiency in older men and its relationship with muscle mass and performance (2017) (4)
Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia. (2016) (4)
Mitochondrial oxidations and tissue carnitine concentrations in riboflavin-deficient rats (1985) (4)
No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia (2004) (4)
Neuromuscular Junction Abnormalities in Mitochondrial Disease AnObservational Cohort Study (4)
Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios (2000) (4)
Age‐associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon (2021) (4)
Reproductive Options for Women with Mitochondrial Disease (2019) (4)
Variant sequences of the Hexokinase II gene in familial NIDDM (1996) (4)
Metabolic changes in rats caused by chronic feeding of ethyl 2-[5-(4-chlorophenyl)pentyl]oxiran-2-carboxylate: A new hypoglycaemic compound (1981) (4)
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets (1992) (4)
Neuromuscular Junction Abnormalities in Mitochondrial Disease (2019) (4)
Mitochondrial isolation: when size matters (2020) (3)
Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse (2020) (3)
A national epidemiological study of chronic progressive external ophthalmoplegia in the United Kingdom - molecular genetic features and neurological burden (2014) (3)
Mitochondrial genotype and clinical phenotype. (1998) (3)
VOMITING, ANOREXIA, AND MITOCHONDRIAL DNA DISEASE. AUTHORS' REPLY (1998) (3)
Endocrine manifestations and new developments in mitochondrial disease. (2021) (3)
Bi-phasic dynamics of the mitochondrial DNA mutation m.3243A>G in blood: An unbiased, mutation level-dependent model implies positive selection in the germline (2021) (3)
Sub-cellular origin of mtDNA deletions in human skeletal muscle Running head: Pathogenesis of mtDNA deletion clonal expansion (2018) (3)
Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C “NARP” mutation (2015) (3)
THE EFFECTS OF HIGH INTENSITY INTERVAL TRAINING ON CLINICAL SYMPTOMS AND FUNCTIONAL CAPACITY IN ADULTS WITH NEUROMUSCULAR DISEASE (2013) (3)
Evolution of soil on Mars (2016) (3)
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex (1988) (3)
Searching for the needle in the Haystacks (2009) (3)
Defects of oxidative phosphorylation in man. (1993) (3)
Redox control of P-oxidation in rat liver mitochondria (1994) (3)
Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects (2021) (3)
Dynamics of the most common pathogenic mtDNA variant m.3243A>G demonstrate frequency-dependency in blood and positive selection in the germline (2022) (3)
Pathogenic mitochondrial DNA mutations and human reproduction. (1999) (3)
Mitochondrial DNA disease masquerading as age-related macular degeneration (1999) (2)
Mitochondrial DNA and disease. (1998) (2)
Mitochondrial dysfunction as a cause of axonal degeneration in the progressive stage of multiple sclerosis (2007) (2)
Gene therapy for mitochondrial DNA disorders (2003) (2)
Carnitine palmitoyltransferase deficiency. (1988) (2)
Mitochondrial Medicine: A Historical Point of View (2019) (2)
Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis (2020) (2)
Studies of [U-14C]palmitate metabolism by rat skeletal muscle mitochondria: identification of the products by radio-high-performance liquid chromatography (1987) (2)
Phenotypes and Genotypes of Mitochondrial Disease- Findings from A National Mitochondrial Disease Cohort (P2.061) (2015) (2)
Lower urinary tract dysfunction in adult patients with mitochondrial disease (2020) (2)
Analysis of mitochondrial DNA mutations : point mutations. (2000) (2)
The diagnosis of posterior reversible encephalopathy syndrome (2015) (2)
Automated quantitative high-throughput multiplex immunofluorescence pipeline to evaluate OXPHOS defects in formalin-fixed human prostate tissue (2022) (2)
Association of mitochondrial respiratory chain deficiency in older men with muscle mass and physical performance: findings from the Hertfordshire Sarcopenia Study (2017) (2)
Mitochondrial DNA (MTDNA) mutations in human colonic crypts: A novel biomarker of colorectal cancer. (2006) (2)
Can detrimental mtDNA mutations be under positive selection in the germline? (2020) (2)
Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease (2016) (2)
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation (2009) (2)
PP-41 DETERMINATION OF MUTATION LOADS IN PREIMPLANTATION EMBRYOS TO ASSESS THE EFFECTIVENESS OF PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR MITOCHONDRIAL DNA (MTDNA) INHERITED DISORDERS (2012) (2)
Distinctive Features of Orbital Adipose Tissue (OAT) in Graves’ Orbitopathy (2020) (2)
The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson's disease (2020) (2)
Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease (2013) (2)
Chapter 7 Current and Future Prospects for the Treatment of Mitochondrial Disorders (2002) (2)
Metabolic studies using isolated skeletal muscle: investigation of metabolic myopathies. (1987) (2)
Organic aciduria in fasted rats caused by 2-[6-(4-chlorophenoxy)hexyl]oxirane-2-carboxylate (etomoxir). (1991) (2)
Mitochondrial Neurodegenerative Disorders I: Parkinsonism and Cognitive Deficits (2019) (1)
Defects of fatty acid oxidation in skeletal muscle (1987) (1)
Clinical Diagnosis of Oxidative Phosphorylation Disorders (2004) (1)
Mitochondrial DNA mutations in the haematopoietic system (2004) (1)
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia (2017) (1)
Mitochondrial dysfunction in neurodegenerative disorders: Second edition (2016) (1)
Decreased glucose uptake in myoblasts from insulin resistant non-diabetic relatives of type 2 diabetic families (2000) (1)
Current perspectives in the treatment of mitochondrial DNA diseases. (2001) (1)
Mitochondrial allostatic load? The combined effect of glucose intolerance and mitochondrial DNA mutations on the incidence of neurological symptoms (2012) (1)
THE MEDICAL RESEARCH COUNCIL NEUROMUSCULAR CENTRE FOR TRANSLATIONAL RESEARCH MITOCHONDRIAL DISEASE PATIENT COHORT STUDY UK: FROM CONCEPTUALISATION TO UTILISATION (2013) (1)
Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period (2006) (1)
DRIVING AND STROKE. AUTHORS' REPLY (1997) (1)
Mitochondrial DNA mutations and aging in human colonic crypts and stem cells (2003) (1)
Annotation: Mitochondrial genotype and clinical phenotype (1998) (1)
The mitochondrial genome, aging and neurodegenerative disorders. (2002) (1)
Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation. (1991) (1)
Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry. (2022) (1)
Interventions for promoting physical activity in people with neuromuscular disease. (2021) (1)
Diagnostic Algorithm in Adult-Onset Mendelian PEO Associated with Mitochondrial Disease (I4.012) (2016) (1)
The legacy of mitochondrial DNA (2003) (1)
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia (2017) (1)
Letters to the editor (1984) (1)
Proliferation of hepatic peroxisomes in rats caused by chronic administration of ethyl 2-[5-(4-chlorophenyl)pentyl)]oxiran-2-carboxylate: A new hypoglycaemic compound (1981) (1)
Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation (2003) (1)
Mitochondria, the synapse, and neurodegeneration (2016) (1)
Metabolic Oversupply and Mitochondrial Dysfunction as a Cause of Diaphragmatic Failure after Mechanical Ventilation (2012) (1)
Hyperventilation during the EEG is safe in mitochondrial disease (2011) (1)
Mitochondria and Aging (2003) (1)
Mutations of mitochondrial DNA: the molecular basis of mitochondrial encephalo-myopathies and ageing (1991) (1)
The Role of Mitochondria-Linked Fatty-Acid Uptake-Driven Adipogenesis in Graves Orbitopathy (2021) (1)
Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures (2013) (1)
Novel preliminary findings of mitochondrial DNA mutations in colonic crypts of patients with diverticular disease (the Boricc study) (2007) (1)
A subcellular cookie cutter for spatial genomics in human tissue (2021) (1)
The use of PNAs and their derivatives in mitochondrial gene therapy (2003) (1)
The seventh European Meeting on Mitochondrial Pathology (2009) (1)
O-48: TNFα and insulin sensitivity in humans: effects in vivo of antibody blockade in obese NIDDM patients and in vitro upon human cultured myotubes (2009) (1)
Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply (2008) (1)
Pronuclear transfer in abnormal human embryos (2010) (1)
Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer? (2009) (1)
Diagnosis and incidence of mitochondrial respiratory chain disease in adults (2000) (1)
Mitochondrial dysfunction correlates directly with progression and poor long-term prognosis in prostate cancer (2019) (1)
P51 Diabetes is a risk factor for hypertension in adults with the m.3243A>G mitochondrial DNA mutation (2011) (1)
Management of patients with dental disease and mitochondrial disorders. (2012) (1)
PROGRESSIVE COGNITIVE DIFFICULTIES IN ADULT PATIENTS WITH MITOCHONDRIAL DISEASE (2013) (1)
Book Review Mitochondrial Medicine Edited by Salvatore DiMauro, Michio Hirano, and Eric A. Schon. 348 pp., illustrated. Abingdon, England, Informa Healthcare, 2006. $229.95. 1-84214-288-7 (2006) (1)
Detection and quantiﬁcation of mitochondrial DNA deletions in individual cells by real-time PCR (1)
Complex aetiology of type 2 diabetes. (1994) (1)
Comprar Mitochondrial Dysfunction In Neurodegenerative Disorders 2nd Ed. | Amy K. Reeve | 9783319286358 | Springer (2016) (1)
Edinburgh Research Explorer Loss of myelin-associated glycoprotein in kearns-sayre syndrome (2018) (0)
Investigation of the mitochondrial genome in patients with atypical motor neuron disease (2007) (0)
THE EFFECTS OF MITOCHONDRIAL DYSFUNCTION ON OSTEOBLAST FUNCTION IN THE PATHOGENESIS OF OSTEOPOROSIS (2016) (0)
Topoisomerase 3 α is required for decatenation and segregation of human mitochondrial DNA (2017) (0)
Mitochondrial defects within choroid plexus in multiple sclerosis (2011) (0)
M17 Developing a novel technique of imaging mass cytometry for use in skeletal muscle (2018) (0)
P56 Mitochondrial DNA deletions do not have a replicative advantage in human muscle (2012) (0)
cells?and action in cultured human skeletal muscle Does impaired mitochondrial function affect insulin (2013) (0)
Axonal adaptation to demyelination in the Plp mouse (2007) (0)
Biology and Pathology of the Oocyte: The legacy of mitochondrial DNA (2013) (0)
Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance (2008) (0)
Neuronal apoptosis occurs in patients with mitochondrial DNA disorders (2003) (0)
Uncoupling of energy production. (2022) (0)
Comprar Mitochondrial Dysfunction in Neurodegenerative Disorders | Reeve, A.K. | 9780857297006 | Springer (2011) (0)
Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo (2018) (0)
Ophthalmoplegia: When all the tests are negative (2004) (0)
Topoisomerase 3 alpha is required for decatenation and segregation of human mitochondrial DNA. Nicholls et al. (2017) (0)
P73 Mitochondrial abnormalities in inclusion body myositis (2011) (0)
Reply (2016) (0)
Towards therapeutic application of IVF-based techniques to prevent transmission of mtDNA disease (2015) (0)
M08 Understanding the mechanisms contributing to Alpers’ neuropathology (2017) (0)
PGD to prevent mitochondrial disease: embryological aspects (2014) (0)
Modelling of the expansion of normal human colonic crypts (2006) (0)
Neurogenetics: Mitochondrial disorders (2012) (0)
Mitochondrial disease: new prevalence figures with major resource implications (2004) (0)
Phase II Feasibility Study of the Efficacy, Tolerability, and Impact on the Gut Microbiome of a Low-Residue (Fiber) Diet in Adult Patients With Mitochondrial Disease (2022) (0)
Na+ Channels Co-Localise With Mitochondrial Enzyme Activity in the Unmyelinated Part of the Human Optic Nerve Head (2003) (0)
P3462Cardiac manifestations in adult patients with mitochondrial disease arising from nuclear gene mutations: do they benefit from cardiac surveillance? (2018) (0)
Quantitative 3 D Mapping o f the Human Skeletal Muscle Mitochondrial Network Graphical (2019) (0)
Anthralin interacts with the Q pool and induces cytochrome c release, caspase 3 activation and apoptosis in human keratinocytes (2005) (0)
mtDNA disease for the neurologist (2011) (0)
Contractile In/Activity Influence Mitochondrial Morphology and Membrane Interactions in Mouse Skeletal Muscle (2013) (0)
Mitochondrial isolation: when size matters. (2020) (0)
G.P.3.15 Waking the sleeping giant; habitual physical inactivity in people with mitochondrial disease (2008) (0)
Spectrophotometric and polarographic analyses of respiratory-deficient mitochondrial cybrids (2011) (0)
Chemotherapeutic induced neuropathy (CIPN) (2012) (0)
[abstract] Neuronal loss in Multiple Sclerosis: Role of Mitochondria in the Axonal response to Demyelination (2003) (0)
The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective (2008) (0)
Highlights from the literature (1957) (0)
P56 Why does mitochondrial disease progress? From molecular genetics to patient phenotype (2011) (0)
Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome (2008) (0)
The Core Clinical Features of MTATP6-Related Mitochondrial Disease (S30.005) (2016) (0)
Prevalence and Outcome of Mitochondrial Epilepsy Reply (2016) (0)
[abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults (2006) (0)
GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism (2002) (0)
CHAPTER 88 – METABOLIC MYOPATHIES (INCLUDING MITOCHONDRIAL DISEASES) (2007) (0)
Revisiting the Clinical, Histochemical and Molecular Spectrum of Adult-Onset adPEO Associated with the C10Orf2 (PEO1) Mutation (2016) (0)
P78 Habitual physical activity in mitochondrial disease – do we need to intervene? (2010) (0)
Metabolic disorders and neurotoxicology. (1993) (0)
The Clinical and Genetic Features and Brain Imaging Findings in Mitochondrial Disease Patients Presenting with Movement Disorders (P1.076) (2016) (0)
Clonal expansion of mtDNA deletions in skeletal muscle: new insights into mechanisms (2016) (0)
Metabolic disorders in children. (1994) (0)
Effect of weight loss on mitochondrial defects in the ageing human colon (2018) (0)
Sudden Adult Death Syndrome: An Uncommon or Simply Unrecognised Clinical Entity in Young, Asymptomatic Adults with m.3243A>G Disease? (P2.100) (2015) (0)
The prevalence of mitochondrial disease in the adult population (2015) (0)
Self-targeting by CRISPR : gene regulation or autoimmunity ? (2010) (0)
Concentric remodeling and increased myocardial torsion in mitochondrial DNA point mutation carriers (2012) (0)
LEIGHʼS DISEASE ASSOCIATED WITH DEFICIENCY OF NADH –COENZYME Q REDUCTASE: 6 (1990) (0)
A GENETIC WEAKNESS—PHOENICIAN LEGACY OR CELTIC HERITAGE? (2014) (0)
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging (2020) (0)
333-LB: Impact of Aging on Mitochondrial Respiratory Chain Expression and Pancreatic Islet Cell Composition by Using a Mitochondrial DNA Mutator Mouse Model (2019) (0)
SUDDEN UNEXPECTED DEATH IN ADULTS WITH M. 3243A>G MUTATION (2014) (0)
Leading Edge Previews Mitochondrial DNA Transcription : Regulating the Power Supply (2007) (0)
1.128 DIFFERENTIAL MITOCHONDRIAL PROTEIN EXPRESSION WITHIN SINGLE GLYCINERGIC NEURONS OF THE PEDUNCULOPONTINE NUCLEUS OF PARKINSON'S DISEASE PATIENTS (2012) (0)
Evaluation of Clinico-radiological, Molecular and Histological Diagnosis of m.3243A>G-related MELAS Syndrome (P2.259) (2015) (0)
A homoplasmic mtDNA mutation promotes rapid decay of deacylated mt-tRNAVal (2004) (0)
P48 Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T>C & 14487T>C mtDNA mutations by pyrosequencing (2011) (0)
Diagnosis and Treatment of Mitochondrial Myopathies (2018) (0)
Mitochondrial dysfunction within chronically demyelinated axons in multiple sclerosis (2008) (0)
An Unusual Cause of Progressive Ataxia and Devastating Seizure Disorder (S20.003) (2016) (0)
Investigation of mitochondrial gene mutations in glaucoma. (2001) (0)
When and how should neurologists test for mutations in POLG (2007) (0)
Finding a niche. The location of human prostate stem cells (2014) (0)
Production of 3-enoyl-CoA esters from palmitate by rat liver mitochondria. (1994) (0)
The PDXK rs2010795 Variant Is Not Associated with Parkinson Disease in Italy [reply] (2010) (0)
A systematic review of mitochondrial disease in pregnancy (2010) (0)
Sensory nerve cell dysfunction contributes to peripheral neuropathy in mitochondrial disease (2011) (0)
The neuropathology of mitochondrial DNA disorders (2004) (0)
Reply (2010) (0)
Estimating the allele frequency threshold of the pathogenic mtDNA variant m.3243A>G tolerated by human myofibres (2022) (0)
Chronic Gastrointestinal Dysmotility in Adult m.3243A>G-Related Mitochondrial Disease: An Under-Recognised and Under-Treated Clinical Entity (P5.262) (2016) (0)
Defects of the mitochondrial genome (2002) (0)
[ST10]Mitochondrial tRNA mutations – which can be inherited and why? (2010) (0)
Analysis of Primary Visual Cortex in Dementia with Lewy Bodies Indicates Abnormal Inhibitory Neurotransmission and Involvement of Bottom Up Pathways (2018) (0)
P57 Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans (2012) (0)
A role for mitochondria in axonal loss in multiple sclerosis: studies in the Shiverer mouse model (2005) (0)
Reply (2008) (0)
Edinburgh Research Explorer No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis (2013) (0)
Autoclaving Guthrie cards does not prevent their use in PCR reactions ! (0)
Can high intensity interval training improve functional capacity and clinical symptoms in inflammatory and mitochondrial myopathies (2013) (0)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy (2011) (0)
Assigning pathogenicity to mitochondrial tRNA gene mutations (2010) (0)
Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease (2021) (0)
POG05 Habitual physical activity in mitochondrial disease—do we need to intervene? (2010) (0)
Detecting respiratory chain deficiency in osteoblasts of older patients (2021) (0)
101 Systematic review of controlled trials in the treatment of mitochondrial disorders (2012) (0)
P49 Manipulation of human abnormally fertilized pronuclear stage zygotes following vitrification (2011) (0)
P65 Systematic review of controlled trials in the treatment of mitochondrial disorders (2012) (0)
Preimplantation genetic diagnosis for mitochondrial DNA disease (2014) (0)
Intermediate GAA repeat expansions of the X25/frataxin gene in type 2 diabetes (1999) (0)
Journal Pre-proof Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease. (2022) (0)
Left ventricular concentric hypertrophy and strain redirection in m . 3243 A > G mutation carriers : cardiomyopathy correlates with mutation load (2010) (0)
Clonal Expansion of Mitochondrial Dna Mutations in Aged Human Muscle (1997) (0)
Evaluation and treatment of myopathies Robert C. Griggs, Jerry R. Mendell, Robert G. Miller. Published 1995 by F.A. Davies Co., Philadelphia, USA. ISBN 0 8036 4410 8, 434 pp. Price £125 (1996) (0)
Clusters of phenotypically related human colonic crypts develop through crypt fission: Implications for colorectal carcinogenesis (2005) (0)
Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene (2006) (0)
Lineage tracking in situ: Where are the prostate stem cells? What are they doing? (2012) (0)
G.P.3.03 A histochemical and molecular genetic investigation of the selective, extraocular muscle involvement in chronic progressive external ophthalmoplegia (2008) (0)
Chapter 5 Mitochondrial oxidations and ATP synthesis in muscle (1996) (0)
P4.59 A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis (2010) (0)
Annals 25th anniversary (2001) (0)
Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism (2004) (0)
Neuropathological changes in Alpers' syndrome (2013) (0)
A CLINICAL AUDIT OF ACUTE MANAGEMENT OF STROKE-LIKE EPISODES FROM A NATIONAL MITOCHONDRIAL DISEASE CENTRE (2015) (0)
Targeted gene expression analysis in Parkinson's disease and ageing (2007) (0)
Lower urinary tract symptoms amongst adult patients with genetically-confirmed mitochondrial disease (2019) (0)
Congenital Muscular Dystrophies (1999) (0)
THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS (2017) (0)
Sequence variation in the mitochondrial genome: what is the pathogenic mutation? (2005) (0)
Degeneration of olivo-cerebellar circuitry in patients with mitochondrial disease: A neuropathological study (2011) (0)
Novel therapies for mitochondrial myopathies (2002) (0)
Proving pathogenicity: When evolution is not enough. Authors' reply (2004) (0)
Distribution of mitochondrial dysfunction in ageing ocular tissues. (2001) (0)
Analysisof FattyAcidOxidationIntermediates in CulturedFibroblasts to Detect Mitochondrial OxidationDisorders (1994) (0)
0556 A role for mitochondria in chronic axonal loss in multiple sclerosis: Studies at early and late time points in the shiverer mouse model (2005) (0)
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency (2017) (0)
Mitochondrial disease (2020) (0)
M01 Determining the threshold for Complex I and Complex IV deficiency in patients with the m.3243A>G MT-TL1 mutation (2018) (0)
Cellular vulnerability in Lewy body diseases (2020) (0)
Mitochondria and axonal loss in multiple sclerosis: the missing link? (2005) (0)
Selective Inhibition of Mutant Mitochondrial DNA Replication (1997) (0)
An increase in axonal mitochondrial density may play a role in axonal loss following myelin degeneration in the Plp1 mouse model of demyelination (2007) (0)
Primary oligodendropathy in a patient with Kearns Sayre syndrome (2011) (0)
Vascular pathology in mitochondrial disease (2011) (0)
Investigation of metabolic myopathies. (2007) (0)
M11 Reproductive options in maternally inherited mitochondrial disease: ‘making sense’ (2017) (0)
Author response for "The rise and rise of mitochondrial DNA mutations" (2020) (0)
Mitochondrial dysfunction and remyelination failure (2011) (0)
Spectrum of Movement Disorders in Mitochondrial Disorders-Reply. (2016) (0)
Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture (2006) (0)
AJHG MS 43461 revised v 3 Mutant POLG 2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia (2008) (0)
141 Development of prostate intra-epithelial neoplasia in an aging series of PolgA mutator mice suggests a role for mitochondrial DNA mutations in prostate carcinogenesis (2016) (0)
A NOVEL MITOCHONDRIAL TRNAPRO MUTATION ASSOCIATED WITH MYOCLONIC EPILEPSY WITH RAGGED RED FIBRES AND OTHER NEUROLOGICAL FEATURES (2007) (0)
Decreased mitochondrial respiration impairs insulin action in cultured human skeletal muscle cells (2006) (0)
Multiple Deaths due to Homoplasmic Mitochondrial DNA Mutations (2002) (0)
EVALUATION OF FUNCTIONAL OUTCOME MEASURES AS A SURROGATE MARKER OF DISEASE SEVERITY IN PATIENTS WITH MITOCHONDRIAL DISEASE (2013) (0)
Book Review Neuromuscular Diseases: Expert Clinicians' Views Edited by Rahman Pourmand. 655 pp., illustrated. Boston, Butterworth–Heinemann, 2001. $125. 0-7506-7019-3 (2002) (0)
Correlates of processing speed difficulty in patients with mitochondrial disease (2012) (0)
Unusual congenital demyelinating neuropathies with sensory organ deficits caused by mutant transcription factors (2017) (0)
Mitochondrial myopathies: defects in beta-oxidation. (1985) (0)
CAUSE OF DEATH IN A NATIONAL COHORT OF ADULT MITOCHONDRIAL PATIENTS (2017) (0)
P74 Finding the missing gap – mitochondrial DNA deletions in muscle stem cells (2010) (0)
Mitochondria and axonal loss in multiple sclerosis: the shiverer mouse as a model of secondary progressive MS (2005) (0)
Can reproductive technologies prevent transmission of mitochondrial DNA disease (2016) (0)
Dithranol induces cytochrome c release, caspase 3 activation and apoptosis in human keratinocytes (2005) (0)
Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture (2006) (0)
Role of mitochondria in a mouse model of multiple sclerosis (2008) (0)
Endocrine Manifestations and New Developments in Mitochondrial Disease (2021) (0)
L-arginine and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS): a systematic review (2022) (0)
Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions (2001) (0)
Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies (2020) (0)
Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation (2022) (0)
Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder (2022) (0)
POG06 Development and validation of a quality of life scale for mitochondrial disease (Mito-QoL) (2010) (0)

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