Published in Neuropathol Appl Neurobiol on August 01, 2006
Mitochondrial dysfunction in autism. JAMA (2010) 2.04
Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. Neurology (2013) 2.01
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
Stroke and Stroke-like Episodes in Muscle Disease. Open Neurol J (2012) 1.68
The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol (2010) 1.51
The many faces of paediatric mitochondrial disease on neuroimaging. Childs Nerv Syst (2016) 1.43
Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain (2010) 1.27
Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study. J Neuropathol Exp Neurol (2012) 1.17
Synaptic mitochondria in synaptic transmission and organization of vesicle pools in health and disease. Front Synaptic Neurosci (2010) 1.12
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. Brain (2011) 1.03
Pathogenesis and treatment of mitochondrial myopathies: recent advances. Acta Myol (2010) 0.99
Mitochondrial vasculopathy. World J Cardiol (2016) 0.98
Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism. Mol Autism (2013) 0.95
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathol Appl Neurobiol (2015) 0.95
Mitochondrial m.3243A > G mutation and carotid artery dissection. Mol Genet Metab Rep (2016) 0.94
The genetics and pathology of mitochondrial disease. J Pathol (2016) 0.92
Mitochondrial DNA: impacting central and peripheral nervous systems. Neuron (2014) 0.90
Mitochondrial dysfunction and mitochondrial DNA mutations in atherosclerotic complications in diabetes. World J Cardiol (2012) 0.88
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration. Hum Mol Genet (2010) 0.88
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neurol (2010) 0.87
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. J Neuropathol Exp Neurol (2015) 0.85
The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrier. Mitochondrion (2009) 0.85
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain (2012) 0.83
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. Pediatr Neurol (2015) 0.81
Epilepsy in adults with mitochondrial disease: A cohort study. Ann Neurol (2015) 0.80
The appearance of ADCs in the non-affected areas of the patients with MELAS. Neuroradiology (2010) 0.77
The mitochondrial brain: From mitochondrial genome to neurodegeneration. Biochim Biophys Acta (2009) 0.76
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. Eur Heart J (2015) 0.76
Episodic Aphasia Associated With Cortical Spreading Depression After Subdural Hemorrhage Evacuation. Neurohospitalist (2016) 0.75
Genetics of ischaemic stroke in young adults. BBA Clin (2014) 0.75
Neuroprotection and acidosis induced by cortical spreading depression. Neuropsychiatr Dis Treat (2016) 0.75
Review: Central nervous system involvement in mitochondrial disease. Neuropathol Appl Neurobiol (2016) 0.75
Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology (2005) 21.67
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet (1999) 18.22
Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology (1996) 12.33
Out-of-hours calls in a Leicestershire practice. Br Med J (1976) 6.00
Effects of inhaled nitric oxide in patients with acute respiratory distress syndrome: results of a randomized phase II trial. Inhaled Nitric Oxide in ARDS Study Group. Crit Care Med (1998) 5.50
Multi-system neurological disease is common in patients with OPA1 mutations. Brain (2010) 5.37
Correlation of cholinergic abnormalities with senile plaques and mental test scores in senile dementia. Br Med J (1978) 3.59
Integration of general-practitioner and specialist antenatal care. J R Coll Gen Pract (1978) 3.39
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods Cell Biol (2001) 3.00
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet (1991) 2.70
The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet (2002) 2.67
Comparison of high-fat and high-protein diets with a high-carbohydrate diet in insulin-resistant obese women. Diabetologia (2004) 2.66
Staging and natural history of cerebrovascular pathology in dementia. Neurology (2012) 2.61
Modes of spontaneous chromosomal mutation and karyotype evolution in ants with reference to the minimum interaction hypothesis. Jpn J Genet (1988) 2.50
Cholinergic correlates of cognitive impairment in Parkinson's disease: comparisons with Alzheimer's disease. J Neurol Neurosurg Psychiatry (1985) 2.47
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet (1997) 2.45
Leber hereditary optic neuropathy. J Med Genet (2002) 2.33
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am J Hum Genet (2001) 2.31
Bone mineral density and body composition in boys with distal forearm fractures: a dual-energy x-ray absorptiometry study. J Pediatr (2001) 2.31
D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. Pharmacogenetics (1997) 2.28
Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia (2003) 2.26
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. Am J Hum Genet (2003) 2.23
Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology (2004) 2.23
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol (2000) 2.20
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet (2000) 2.19
The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res (2001) 2.17
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain (1997) 2.09
Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann Neurol (1998) 2.08
Overweight and obese children have low bone mass and area for their weight. Int J Obes Relat Metab Disord (2000) 2.07
P53 overexpression in head and neck carcinoma and radiotherapy results. Int J Radiat Oncol Biol Phys (1996) 2.06
Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet (2006) 2.05
Airway obstruction with percutaneous tracheostomy. Chest (1997) 2.02
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology (2005) 2.01
Report of the second dementia with Lewy body international workshop: diagnosis and treatment. Consortium on Dementia with Lewy Bodies. Neurology (1999) 2.00
Necropsy evidence of central cholinergic deficits in senile dementia. Lancet (1977) 1.97
Bone mineral density in girls with forearm fractures. J Bone Miner Res (1998) 1.93
Prognostic significance of HER2 and HER4 coexpression in childhood medulloblastoma. Cancer Res (1997) 1.91
Letter: Unusual cardiac and neurological reactions to narcotics. Lancet (1973) 1.90
Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am J Hum Genet (2000) 1.89
Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology (2006) 1.87
Prospective validation of consensus criteria for the diagnosis of dementia with Lewy bodies. Neurology (2000) 1.85
Neurotransmitter enzyme abnormalities in senile dementia. Choline acetyltransferase and glutamic acid decarboxylase activities in necropsy brain tissue. J Neurol Sci (1977) 1.83
Changes in brain cholinesterases in senile dementia of Alzheimer type. Neuropathol Appl Neurobiol (1978) 1.82
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med (2008) 1.82
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. Am J Hum Genet (2004) 1.80
Apolipoprotein E genes in Lewy body and Parkinson's disease. Lancet (1994) 1.77
Peptide nucleic acid delivery to human mitochondria. Gene Ther (1999) 1.77
Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Hum Genet (1992) 1.77
MELAS associated with mutations in the POLG1 gene. Neurology (2007) 1.77
More broken bones: a 4-year double cohort study of young girls with and without distal forearm fractures. J Bone Miner Res (2000) 1.76
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol (1994) 1.74
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care (1994) 1.68
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet (1997) 1.68
Radiation myelitis of the dorsolumbar spinal cord. Radiology (1969) 1.64
Mitochondrial disease--its impact, etiology, and pathology. Curr Top Dev Biol (2007) 1.64
Dynamic and static tests of balance and postural sway in boys: effects of previous wrist bone fractures and high adiposity. Gait Posture (2003) 1.60
Mitochondrial medicine. QJM (1997) 1.58
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet (1997) 1.53
A neuropathological study of vascular factors in late-life depression. J Neurol Neurosurg Psychiatry (2001) 1.53
Pathological changes in the nucleus of Meynert in Alzheimer's and Parkinson's diseases. J Neurol Sci (1983) 1.51
Analysis of European mtDNAs for recombination. Am J Hum Genet (2000) 1.51
Operational criteria for senile dementia of Lewy body type (SDLT). Psychol Med (1992) 1.49
Striatal dopaminergic markers in dementia with Lewy bodies, Alzheimer's and Parkinson's diseases: rostrocaudal distribution. Brain (1999) 1.48
Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Ann Neurol (1999) 1.46
Cholinergic activity in autism: abnormalities in the cerebral cortex and basal forebrain. Am J Psychiatry (2001) 1.44
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology (2003) 1.43
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain (1995) 1.42
Insulin and proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNA(Leu(UUR)) mutation. Diabetes Care (1995) 1.42
Can paternal mtDNA be inherited? Lancet (2000) 1.41
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology (1994) 1.41
No evidence of an association between the T16189C mtDNA variant and late onset dementia. J Med Genet (2004) 1.40
Effects of physical activity and age on mitochondrial function. QJM (1996) 1.39
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr (1998) 1.39
Manpower imbalance in obstetrics and gynaecology. Br Med J (Clin Res Ed) (1983) 1.39
Recurrent strokes in a 34-year-old man. Lancet (1997) 1.39
Prognostic implications of p53 protein, epidermal growth factor receptor, and Ki-67 labelling in brain tumours. Br J Cancer (1992) 1.36