Patrick Chinnery

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Patrick Chinnery is affiliated with the following schools: Newcastle University, University of Cambridge

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Patrick Chinnery

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#976

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Neurology

#98

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#148

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According to Wikipedia, Professor Patrick Francis Chinnery, FRCP, FRCPath, FMedSci, is a neurologist, clinician scientist, and Wellcome Trust Principal Research Fellow based in the Medical Research Council Mitochondrial Biology Unit and the University of Cambridge, where he is also Professor of Neurology and Head of the Department of Clinical Neurosciences.

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Patrick Chinnery'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)
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (2015) (640)
The Human Phenotype Ontology in 2017 (2016) (640)
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease (2015) (603)
Mitochondrial diseases (2016) (588)
Prevalence of mitochondrial DNA disease in adults (2008) (557)
Pathogenic Mitochondrial DNA Mutations Are Common in the General Population (2008) (546)
Disturbed mitochondrial dynamics and neurodegenerative disorders (2015) (534)
Leber hereditary optic neuropathy (2002) (533)
Mitochondrial DNA mutations in human colonic crypt stem cells. (2003) (530)
Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies (2011) (513)
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development (2015) (508)
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease (2001) (485)
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. (1997) (454)
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes (2008) (453)
The epidemiology of pathogenic mitochondrial DNA mutations (2000) (435)
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. (2009) (435)
The epidemiology of Leber hereditary optic neuropathy in the North East of England. (2003) (427)
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease (2010) (406)
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. (2011) (405)
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)
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy (2011) (404)
The epidemiology of mitochondrial disorders--past, present and future. (2004) (389)
Multi-system neurological disease is common in patients with OPA1 mutations (2010) (384)
Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity (2022) (382)
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)
Inherited mitochondrial optic neuropathies (2008) (365)
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer (2014) (358)
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. (2013) (357)
Characterizing mild cognitive impairment in incident Parkinson disease (2014) (354)
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. (2007) (344)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary (2006) (329)
Universal heteroplasmy of human mitochondrial DNA (2012) (325)
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. (2001) (320)
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)
Gene–environment interactions in Leber hereditary optic neuropathy (2009) (298)
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease (2017) (278)
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease (2011) (278)
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation (2008) (273)
Mitochondrial dysfunction in aging: Much progress but many unresolved questions (2015) (267)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (2006) (261)
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? (2000) (244)
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. (2003) (244)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy (2013) (233)
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids (1997) (227)
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? (2002) (221)
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21 (2010) (215)
Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia (2006) (213)
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations (2011) (209)
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. (2011) (206)
Risk of developing a mitochondrial DNA deletion disorder (2004) (200)
Epidemiology and treatment of mitochondrial disorders. (2001) (197)
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. (2011) (197)
Mitochondrial DNA polymerase-γ and human disease (2006) (194)
Relaxed replication of mtDNA: A model with implications for the expression of disease. (1999) (193)
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. (2005) (189)
Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity (2010) (184)
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society (2017) (179)
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. (2006) (179)
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD (2005) (179)
Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration (2010) (172)
Can mitochondrial DNA mutations cause sperm dysfunction? (2002) (172)
Two direct repeats cause most human mtDNA deletions. (2004) (171)
Mitochondrial DNA and survival after sepsis: a prospective study (2005) (168)
Random genetic drift determines the level of mutant mtDNA in human primary oocytes. (2001) (165)
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. (2001) (164)
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. (2010) (164)
Mitochondrial genetics (2013) (160)
Locating the stem cell niche and tracing hepatocyte lineages in human liver (2009) (160)
New treatments for mitochondrial disease—no time to drop our standards (2013) (155)
Tau and α‐synuclein in susceptibility to, and dementia in, Parkinson's disease (2007) (155)
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) (2003) (154)
Treatment for mitochondrial disorders. (2012) (152)
Peptide nucleic acid delivery to human mitochondria (1999) (152)
Diagnosis and treatment of mitochondrial myopathies (2011) (151)
Epigenetics, epidemiology and mitochondrial DNA diseases. (2012) (151)
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. (2012) (149)
Germline selection shapes human mitochondrial DNA diversity (2019) (148)
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (2018) (145)
Analysis of European mtDNAs for recombination. (2001) (145)
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy (2012) (144)
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance (2014) (144)
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? (2001) (141)
Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases (2014) (138)
The spectrum of hearing loss due to mitochondrial DNA defects. (2000) (136)
Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. (2007) (135)
Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease (2012) (134)
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. (2006) (133)
Mitochondrial disease in adults: A scale to monitor progression and treatment (2006) (133)
Treatment strategies for inherited optic neuropathies: past, present and future (2014) (131)
Genetic impact on cognition and brain function in newly diagnosed Parkinson’s disease: ICICLE-PD study (2014) (129)
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. (2006) (126)
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis (2009) (125)
Variation in germ line mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission (2012) (124)
Clinical mitochondrial genetics (1999) (124)
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. (2015) (123)
Exome sequencing in undiagnosed inherited and sporadic ataxias (2014) (121)
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood (2010) (120)
Titin mutation segregates with hereditary myopathy with early respiratory failure. (2012) (119)
Clinical features of hereditary spastic paraplegia due to spastin mutation (2006) (119)
Mitochondrial DNA mutations in neurodegeneration. (2015) (119)
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (2014) (119)
Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1 (2013) (117)
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease (2013) (115)
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)
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA (2014) (113)
Mitochondrial DNA analysis: polymorphisms and pathogenicity (1999) (113)
Nonrandom tissue distribution of mutant mtDNA. (1999) (112)
Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies (2015) (112)
Mitochondrial DNA polymerase-gamma and human disease. (2006) (111)
Mitochondrial disease in adults: what's old and what's new? (2015) (111)
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia (2014) (111)
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency (2016) (110)
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies (2000) (109)
Haplotypes and gene expression implicate the MAPT region for Parkinson disease (2008) (108)
Clinical features, investigation, and management of patients with defects of mitochondrial DNA (1997) (107)
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. (2008) (106)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion (2020) (104)
Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders (2005) (103)
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy (2009) (102)
Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells (2004) (102)
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules (2010) (102)
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study (2008) (102)
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations (2013) (100)
Mitochondrial DNA mutations in the pathogenesis of human disease. (2000) (100)
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (2009) (100)
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. (1998) (99)
HIV Treatment and Associated Mitochondrial Pathology (2014) (99)
The power to detect disease associations with mitochondrial DNA haplogroups. (2006) (98)
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism (2005) (93)
Genotypes from patients indicate no paternal mitochondrial DNA contribution (2003) (93)
Whole genome sequencing of a sporadic primary immunodeficiency cohort (2018) (92)
The inheritance of pathogenic mitochondrial DNA mutations (2009) (92)
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3 (2011) (92)
URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION (2009) (91)
Quality of life in patients with leber hereditary optic neuropathy. (2009) (91)
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. (2013) (90)
Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early‐stage Parkinson's disease (2015) (90)
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (2007) (88)
Point mutations of the mtDNA control region in normal and neurodegenerative human brains. (2001) (88)
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. (2014) (88)
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. (2018) (86)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (85)
Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK (2017) (85)
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood (2016) (85)
The minimum prevalence of CADASIL in northeast England (2012) (85)
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension (2017) (84)
Extreme heterogeneity of human mitochondrial DNA from organelles to populations (2020) (84)
Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study (2010) (83)
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO (2010) (83)
Mitochondrial Disorders Overview (2014) (82)
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets (2008) (81)
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. (2007) (81)
A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues (2009) (81)
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. (2012) (81)
mtDNA mutations and common neurodegenerative disorders. (2005) (81)
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies (2015) (81)
Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports (1998) (81)
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy (2009) (79)
Treatment for mitochondrial disorders. (2006) (79)
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains (2017) (78)
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency (2010) (77)
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2019) (77)
The implications of mitochondrial DNA copy number regulation during embryogenesis. (2011) (76)
BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study (2005) (76)
155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands (2008) (75)
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies (2016) (75)
MRI for the demonstration of subclinical muscle involvement in muscular dystrophy. (2007) (75)
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure (2013) (74)
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (73)
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study (2019) (73)
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation (2006) (73)
The distribution of mitochondrial DNA heteroplasmy due to random genetic drift. (2008) (73)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia (2017) (72)
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population (1997) (71)
An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
The mitochondrial DNA genetic bottleneck: inheritance and beyond. (2018) (71)
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness (2015) (71)
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia (2005) (70)
Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation (2004) (70)
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo (2000) (70)
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA (1996) (69)
ANO10 mutations cause ataxia and coenzyme Q10 deficiency (2014) (68)
Neuroferritinopathy: a window on the role of iron in neurodegeneration. (2002) (68)
Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis (2010) (68)
Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans (2015) (68)
Molecular Pathogenesis of Polymerase Gamma–Related Neurodegeneration (2014) (68)
Genetic heterogeneity of motor neuropathies (2017) (67)
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients (2014) (67)
Homoplasmy, heteroplasmy, and mitochondrial dystonia (2007) (66)
Retrospective natural history of thymidine kinase 2 deficiency (2018) (66)
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations (2018) (66)
Evolutionary diversification of mitochondrial proteomes: implications for human disease. (2003) (65)
HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development (2016) (65)
Neuroferritinopathy in a French family with late onset dominant dystonia (2003) (65)
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations (2011) (65)
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis (2004) (64)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (64)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (64)
The Challenges of Mitochondrial Replacement (2014) (63)
Andersen–Tawil syndrome (2005) (63)
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions (2011) (62)
Mitochondrial DNA deletion in “identical” twin brothers (2004) (62)
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees (2004) (61)
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. (2013) (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)
Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene (2009) (60)
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations (2014) (59)
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck (2016) (59)
Somatic mtDNA variation is an important component of Parkinson's disease (2016) (58)
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls (2007) (58)
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome (2012) (58)
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation (2008) (58)
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1) (2008) (57)
Mitochondrial diabetes: investigation and identification of a novel mutation. (1998) (57)
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)
A model of the nuclear control of mitochondrial DNA replication. (2003) (55)
Distinct critical cerebellar subregions for components of verbal working memory (2012) (55)
Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease (2012) (55)
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy (2017) (55)
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients (2014) (55)
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. (2009) (54)
POLG1 in idiopathic Parkinson disease (2006) (54)
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy (2008) (54)
BMC Medicine (2006) (53)
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. (2015) (53)
CSF antigliadin antibodies and the Ramsay Hunt syndrome (1997) (52)
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts (2014) (52)
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. (2002) (52)
Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility (2008) (51)
OPA1 increases the risk of normal but not high tension glaucoma (2009) (51)
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype (2014) (51)
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? (2012) (51)
Emerging therapies for mitochondrial disorders (2016) (51)
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia (2007) (51)
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies (2017) (50)
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy (2009) (50)
Spectrum of movement disorders in neuroferritinopathy (2005) (50)
Molecular epidemiology of spinocerebellar ataxia type 6 (2004) (49)
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease (2018) (49)
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies (2018) (49)
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy (2012) (49)
Optic neuropathies--importance of spatial distribution of mitochondria as well as function. (2005) (49)
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility study. (2014) (49)
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution (2019) (49)
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy (2005) (48)
The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma. (2004) (48)
Mitochondrial Diseases: A Diagnostic Revolution. (2020) (48)
A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis (1997) (47)
Normokalemic periodic paralysis revisited: Does it exist? (2002) (47)
Neuroferritinopathy: a new inborn error of iron metabolism (2012) (47)
High prevalence of focal and multi-focal somatic genetic variants in the human brain (2018) (47)
Childhood-onset Leber hereditary optic neuropathy (2017) (47)
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency (2013) (47)
SPG7 mutations are a common cause of undiagnosed ataxia (2015) (47)
MFN2 mutations cause compensatory mitochondrial DNA proliferation (2012) (46)
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children (2008) (45)
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations (2012) (45)
Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line (2018) (45)
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource (2017) (44)
Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder (2000) (44)
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2 (2010) (44)
Monitoring clinical progression with mitochondrial disease biomarkers (2017) (44)
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia (1997) (44)
Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase &ggr; (2008) (44)
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. (2013) (44)
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank (2021) (44)
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. (2007) (43)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes (2018) (43)
Mitochondrial DNA and traumatic brain injury (2014) (43)
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy (2010) (43)
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency (2016) (43)
Charcot–Marie–Tooth disease in Northern England (2011) (43)
Analysis of spectrum and frequencies of mutations in McArdle disease (2007) (43)
No consistent evidence for association between mtDNA variants and Alzheimer disease (2012) (42)
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. (2008) (42)
LRRK2 exonic variants and risk of multiple system atrophy (2014) (42)
Searching for nuclear-mitochondrial genes. (2003) (42)
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease (2017) (42)
Treatment of Mitochondrial Disease (1997) (42)
Replication of association between ELAVL4 and Parkinson disease: the GenePD study (2008) (41)
Mitochondrial heteroplasmy beyond the oocyte bottleneck. (2019) (40)
Mitochondrial pathology in progressive cerebellar ataxia (2015) (40)
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6 (2014) (40)
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load (2018) (40)
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6 (2009) (39)
A high frequency of mtDNA polymorphisms in HeLa cell sublines. (2002) (39)
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age (2006) (39)
Mitochondria in neuroinflammation – Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS (2017) (39)
Exome sequencing in dementia with Lewy bodies (2016) (39)
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load (2012) (39)
Diagnosis of muscle diseases presenting with early respiratory failure (2015) (38)
Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases (2018) (38)
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease (2016) (38)
Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans. (2010) (37)
Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. (2015) (37)
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations (2017) (37)
How can we treat mitochondrial encephalomyopathies? approaches to therapy (2008) (37)
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. (2011) (37)
The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages (2016) (36)
Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation. (2012) (36)
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation (2015) (36)
POLG-Related Disorders (2014) (36)
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene (2004) (36)
Age-Related Mitochondrial DNA Depletion and the Impact on Pancreatic Beta Cell Function (2014) (35)
Mitochondrial myopathies: developments in treatment. (2010) (35)
Metabolic effects of bezafibrate in mitochondrial disease (2020) (34)
Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses (2018) (34)
Transmission of the human mitochondrial genome. (2000) (33)
The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6 (2010) (33)
Abnormal growth in mitochondrial disease (2009) (33)
Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease. (2006) (33)
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism (2014) (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)
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy (2009) (32)
Inheritance of mitochondrial DNA in humans: implications for rare and common diseases (2020) (32)
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase &ggr; (POLG1) (2009) (32)
Primary open angle glaucoma is associated with a specific p53 gene haplotype (2004) (32)
Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions (2018) (32)
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. (2012) (32)
116th ENMC international workshop: the treatment of mitochondrial disorders, 14th–16th March 2003, Naarden, The Netherlands (2003) (32)
Reassessing evidence for a postnatal mitochondrial genetic bottleneck (2010) (32)
First-line genomic diagnosis of mitochondrial disorders (2018) (32)
Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? (2013) (32)
OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS (2008) (32)
Hereditary mtDNA heteroplasmy: a baseline for aging? (2013) (31)
Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets (2012) (31)
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract (2001) (31)
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland (2015) (31)
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls (2012) (31)
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States (2010) (30)
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis (2019) (30)
The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy (2017) (30)
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia (2011) (30)
Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation (2007) (30)
Genetic counseling and prenatal diagnosis for mtDNA disease. (1998) (30)
A novel autosomal dominant distal myopathy with early respiratory failure: Clinico‐pathologic characteristics and exclusion of linkage to candidate genetic loci (2001) (30)
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. (2016) (30)
Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy. (2004) (29)
No evidence of substantia nigra telomere shortening in Parkinson's disease (2011) (29)
Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers† (2012) (29)
Next generation sequencing for neurological diseases: New hope or new hype? (2013) (29)
The mitochondrial ND 6 gene is a hot spot for mutations that cause Leber ’ s hereditary optic neuropathy (2000) (29)
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. (2012) (29)
Mutation-specific effects in germline transmission of pathogenic mtDNA variants (2018) (28)
SCP2 mutations and neurodegeneration with brain iron accumulation (2015) (28)
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia (2013) (28)
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy (2002) (28)
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. (2016) (28)
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT (2013) (27)
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study (2019) (27)
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. (2007) (27)
No association between common POLG1 variants and sporadic idiopathic Parkinson's disease (2009) (27)
Tau acts as an independent genetic risk factor in pathologically proven PD (2012) (27)
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England (2005) (27)
Mitochondrial hepatopathies. (2005) (27)
PRIMARY SPINAL CORD NEURODEGENERATION IN LEBER HEREDITARY OPTIC NEUROPATHY (2007) (26)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures (2018) (26)
Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. (2009) (26)
No correlation between muscle A3243G mutation load and mitochondrial function in vivo (2001) (26)
In-vitro genetic modification of mitochondrial function. (2000) (26)
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy (2003) (26)
Assessment of visual function in chronic progressive external ophthalmoplegia (2006) (26)
A multiple sclerosis‐like disorder in patients with OPA1 mutations (2016) (26)
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease (2017) (25)
Phenotypic variability of TRPV4 related neuropathies (2015) (25)
Two recurrent mutations are associated with GNE myopathy in the North of Britain (2014) (25)
Respiratory chain deficiency in nonmitochondrial disease (2015) (25)
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions (2006) (25)
Leber hereditary optic neuropathy. (2008) (25)
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes (2014) (25)
Inheritance of mitochondrial disorders. (2002) (25)
Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon? (2009) (24)
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. (2016) (24)
Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy (2013) (24)
Dysfunctional mitochondrial maintenance: what breaks the circle of life? (2012) (24)
Mutation in ferritin light chain causes dominant adult onset neurodegeneration (2001) (24)
Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders (2006) (23)
Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells? (2006) (23)
Modulating heteroplasmy. (2002) (23)
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy (2016) (23)
Late‐onset axial jerky dystonia due to the DYT1 deletion (2002) (23)
The role of mitochondrial haplogroups in primary open angle glaucoma (2006) (23)
Neurodegeneration with brain iron accumulation. (2011) (22)
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study (2022) (22)
Prevalence of neurogenetic disorders in the North of England (2015) (22)
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)? (2008) (22)
Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres (2003) (22)
New approaches to the treatment of mitochondrial disorders. (2004) (22)
Current concepts and controversies in neurodegeneration with brain iron accumulation. (2012) (22)
Chapter Five – Neuroferritinopathy (2013) (22)
Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells (2012) (21)
Radiological characterization of spinocerebellar ataxia type 6. (2005) (21)
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia (2015) (21)
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders (2013) (21)
Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma. (2004) (21)
Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene (2015) (21)
A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians (2005) (20)
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency (2020) (20)
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases (2021) (20)
Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate (2012) (20)
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome. (2013) (20)
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study (2021) (20)
Chronic pain is common in mitochondrial disease (2020) (20)
Mitochondria (2003) (20)
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure (2005) (19)
Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila (2019) (19)
Adult-onset Mendelian PEO Associated with Mitochondrial Disease. (2014) (19)
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. (2006) (19)
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. (2013) (19)
Mitochondrial DNA Mutations in Individuals Occupationally Exposed to Ionizing Radiation (2006) (19)
A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate. (2003) (19)
The ischaemic lactate-ammonia test (2001) (18)
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease (2015) (18)
Associating mitochondrial DNA variation with complex traits. (2007) (18)
Human liver stem cells originate from the canals of hering (2009) (18)
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts (2018) (18)
Mitochondrial medicine. (1997) (18)
Neuroferritinopathy: update on clinical features and pathogenesis. (2012) (18)
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England. (2016) (18)
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family (2017) (18)
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy (2002) (18)
Herpes simplex encephalitis is linked with selective mitochondrial damage; a post-mortem and in vitro study (2016) (18)
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. (2016) (18)
An investigation of mitochondrial haplogroups in autism (2008) (18)
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old☆ (2013) (17)
Frequency and signature of somatic variants in 1461 human brain exomes (2018) (17)
Subclinical multisystem neurologic disease in “pure” OPA1 autosomal dominant optic atrophy (2011) (17)
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome (2020) (17)
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease (2019) (16)
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1 (2018) (16)
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes (2022) (16)
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains (2018) (16)
Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy (2005) (16)
Mutations inPNPLA6are linked to photoreceptor degeneration and various forms of childhood (2015) (15)
Investigation of auditory dysfunction in Leber hereditary optic neuropathy (2008) (15)
Reactive Oxygen Species Production and Mitochondrial Dysfunction in White Blood Cells Are Not Valid Biomarkers of Ageing in the Very Old (2014) (15)
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain (2013) (15)
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos (2019) (15)
Mitochondrial DNA Mutations in Ageing and Disease: Implications for HIV? (2015) (15)
Aciclovir induced posterior leucoencephalopathy (2005) (15)
Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31 (2013) (15)
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease (2011) (15)
Mitochondrial disease: mimics and chameleons (2015) (14)
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering (2015) (14)
Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer (2020) (14)
Leber hereditary optic neuropathy presenting in a 75-year-old man. (2008) (14)
Visual and psychological morbidity among patients with autosomal dominant optic atrophy (2013) (14)
Hereditary Myopathy with Early Respiratory Failure (2014) (14)
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation (2009) (14)
Local circuitry in the IMHV of the domestic chick (Gallus domesticus) (1990) (14)
Progressive depletion of mtDNA in mitochondrial myopathy (2006) (14)
Phenotypic convergence of Menkes and Wilson disease (2016) (14)
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy (2012) (13)
ANO 10 mutations cause ataxia and coenzyme Q 10 deficiency (2014) (13)
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations (2002) (13)
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis (2006) (13)
In Vivo Mitochondrial Function in HIV-Infected Persons Treated with Contemporary Anti-Retroviral Therapy: A Magnetic Resonance Spectroscopy Study (2014) (13)
Cell reprogramming shapes the mitochondrial DNA landscape (2021) (13)
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration (2016) (12)
Existing and emerging mitochondrial-targeting therapies for altering Parkinson's disease severity and progression. (2013) (12)
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause (2007) (12)
Genetics and Genomics in Medicine (2014) (12)
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission (2021) (12)
Adults with RRM 2 B-related mitochondrial disease have distinct clinical and molecular characteristics (2012) (12)
Fulminant encephalopathy due to the catastrophic primary antiphospholipid syndrome. (1997) (12)
Cardiac involvement in hereditary myopathy with early respiratory failure (2016) (12)
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities (2017) (11)
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure☆ (2014) (11)
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction (2016) (11)
Oxygen in mitochondrial disease: can there be too much of a good thing? (2018) (11)
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy (2003) (11)
Early neuropsychiatry features in neuroferritinopathy (2013) (11)
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation (2004) (11)
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB (2015) (11)
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization (2013) (10)
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (2012) (10)
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA (2014) (10)
Exome sequencing: how to understand it (2013) (10)
Biparental inheritance of mitochondrial DNA revisited (2021) (10)
Mutations in SUCLA2: a tandem ride back to the Krebs cycle. (2007) (10)
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree (2004) (10)
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy (2010) (10)
Vomiting, anorexia, and mitochondrial DNA disease (1998) (10)
The clinical spectrum of mitochondrial genetic disorders. (2008) (9)
The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome. (2006) (9)
Defining neurogenetic phenotypes (or how to compare needles in haystacks). (2010) (9)
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations (2010) (9)
Elevated serum fibroblast growth factor 21 levels correlate with immune recovery but not mitochondrial dysfunction in HIV infection (2013) (9)
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study (2010) (9)
Leber Hereditary Optic Neuropathy - Therapeutic Challenges and Early Promise. (2011) (9)
Mitochondrial DNA in Homo Sapiens (2006) (8)
Unique mitochondrial DNA in highly inbred feral cattle (2012) (8)
Deep resequencing of mitochondrial DNA. (2015) (8)
Using genome-Wwide complex trait analysis to quantify 'missing heritability' in Parkinson's disease (2012) (8)
Mitochondrial Matchmaking. (2016) (8)
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. (2014) (8)
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis (2009) (8)
Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment (2015) (8)
The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy (2015) (8)
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases (2021) (8)
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease (2019) (8)
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution. (2011) (8)
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project (2020) (8)
No evidence of an association between the T16189C mtDNA variant and late onset dementia (2004) (8)
Fatty Acid Mitochondrial Disorders (2010) (8)
Peptide nucleic acid and delivery to human mitochondria (2000) (7)
Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease (1999) (7)
Psychophysical Evaluation of Cochlear Hair Cell Damage Due to the A3243G Mitochondrial DNA Mutation (2001) (7)
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) (2021) (7)
Transposable elements resistant to epigenetic resetting in the human germline are epigenetic hotspots for development and disease (2020) (7)
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? (2008) (7)
Treatment for mitochondrial disorders (Review) (2009) (7)
Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study (2008) (7)
Single-cell analysis of mitochondrial DNA. (2015) (7)
Titinopathy in a Canadian Family Sharing the British Founder Haplotype (2014) (7)
Could it be mitochondrial? When and how to investigate (2006) (7)
Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy (2009) (7)
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 (2014) (7)
How COVID-19 has changed medical research funding (2021) (6)
Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro (2021) (6)
Visualizing, quantifying and manipulating mitochondrial DNA in vivo. (2020) (6)
[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease (2021) (6)
Treating MNGIE (2006) (6)
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion (2020) (6)
Mitochondrial DNA mutations and pathogenicity. (1998) (6)
071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers (2012) (6)
Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains (2017) (6)
Mitochondrial Replacement in the Clinic. (2020) (6)
Fragile X premutation presenting as essential tremor (2008) (6)
Mitochondrial disorders come full circle (2003) (6)
Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease (2010) (6)
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases (2022) (5)
Is There Alteration in Aortic Stiffness in Leber Hereditary Optic Neuropathy? (2008) (5)
Modifying mitochondrial tRNAs: delivering what the cell needs. (2015) (5)
Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19 (2022) (5)
Exome sequencing identiﬁes GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deﬁciency (2011) (5)
POLG 1 Mutations Manifesting as Autosomal Recessive Axonal Charcot-Marie-Tooth Disease (2007) (5)
Treatment for mitochondrial myopathy (2003) (5)
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ (2017) (5)
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress (2020) (5)
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON (2011) (5)
Mitochondria and cortical gamma oscillations: food for thought? (2011) (5)
The human mitochondrial genome contains a second light strand promoter. (2022) (5)
Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK. (2021) (5)
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission – OPA1 and MFN2 molecular mechanisms and therapeutic strategies 26–28 April 2013, Naarden, The Netherlands (2014) (5)
(Mitochondrial Encephalomyopathies, Mitochondrial Myopathies, Oxidative Phosphorylation Disorders, Respiratory Chain Disorders) (2010) (5)
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration (2022) (5)
Epigenetic regulation in the pathophysiology of Lewy body dementia (2020) (5)
An under-recognised cause of spastic paraparesis in middle-aged women (2013) (4)
The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness (2016) (4)
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. (2022) (4)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Authors' replies (2007) (4)
Management of parkinsonism and psychotic depression in a case of acute intermittent porphyria. (1997) (4)
Clinical, pathological and functional characterization of riboﬂavin-responsive neuropathy (2017) (4)
The Effect of Neurological Genomics and Personalized Mitochondrial Medicine. (2017) (4)
De-fusing mitochondria defuses the mtDNA time-bomb (2019) (4)
The Transmission and Segregation of Mitochondrial DNA in Homo Sapiens (2006) (4)
Optic mitochondriopathies (2005) (4)
Mitochondrial ageing and antiretroviral therapy exposure (2010) (4)
No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia (2004) (4)
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance (2019) (4)
A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. (2018) (4)
Genetics in reverse (2004) (4)
Development and evaluation of rapid data-enabled access to routine clinical information to enhance early recruitment to the national clinical platform trial of COVID-19 community treatments (2021) (4)
Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease. (2011) (4)
Supplementary file 3. (2014) (4)
Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. (2015) (4)
How to spot mitochondrial disease in adults. (2013) (4)
Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
Supplementary file 1. (2015) (4)
Connections of the IMHV in the domestic chick Gallus domesticus (1990) (4)
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing (2017) (3)
Late‐onset mitochondrial disorder with electromyographic evidence of myotonia (2003) (3)
Erratum: Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy (The American Journal of Human Genetics (2014) 95 (332-339)) (2014) (3)
Pathogenic mitochondrial DNA mutations and human reproduction. (1999) (3)
003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene (2012) (3)
Mitochondrial genotype and clinical phenotype. (1998) (3)
Oxford Nanopore sequencing-based protocol to detect CpG methylation in human mitochondrial DNA (2021) (3)
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation (2018) (3)
A novel FTL insertion causing neuroferritinopathy (2010) (3)
VOMITING, ANOREXIA, AND MITOCHONDRIAL DNA DISEASE. AUTHORS' REPLY (1998) (3)
Common POLG Genetic Variants Increase the Risk of Sodium Valproate Induced Liver Injury and Failure (2009) (3)
TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations (2018) (3)
Chapter 7 – Leber Hereditary Optic Neuropathy (2016) (3)
P67 MFN2 mutations cause compensatory mitochondrial DNA proliferation (2012) (3)
Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy using Digital Droplet Polymerase Chain Reaction. (2022) (3)
Neuroscience for neurologists (2003) (3)
Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity (2015) (3)
A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization (2011) (3)
Factor V is an immune inhibitor that is expressed at increased levels in leukocytes of patients with severe Covid-19 (2021) (3)
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues (2021) (3)
Supplementary file 2. (2014) (2)
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica (2012) (2)
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (2018) (2)
Mitochondrial DNA and disease. (1998) (2)
Mitochondrial DNA disease masquerading as age-related macular degeneration (1999) (2)
Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment. (2015) (2)
Nuclear-mitochondrial proteins: too much to process? (2015) (2)
Visualizing, quantifying, and manipulating mitochondrial DNA in vivo (2020) (2)
Informed consent in clinical trials. Consent may not be possible. (1993) (2)
Response to Newman et al. (2017) (2)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (2)
[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease (2021) (2)
Reply: Sensorineural hearing loss in OPA1-linked disorders (2013) (2)
Severe toxicity and polymerase-γ gene abnormalities in Malawian adults on stavudine-based antiretroviral therapy. (2013) (2)
Shortening the diagnostic odyssey—the impact of whole genome sequencing in the NHS (2021) (2)
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases (2021) (2)
The Mitochondrion and its Disorders (2003) (2)
Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery (2019) (2)
Analysis of mitochondrial DNA mutations : point mutations. (2000) (2)
Periodic paralysis, malignant ventricular arrhythmia and dysmorphism (Andersen's syndrome): A skeletal muscle potassium channel disorder (2002) (2)
Modulating Mitochondrial DNA Mutations: Factors Shaping Heteroplasmy in the Germ Line and Somatic Cells. (2022) (2)
Childhood presentation of “adult” polyglucosan body disease (2013) (2)
Disorders of Voluntary Muscle: Mitochondrial myopathies (2010) (2)
First-line genomic diagnosis of mitochondrial disorders (2018) (2)
P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome (2013) (2)
429 – Muscle Diseases (2012) (1)
Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer (2020) (1)
THE MEDICAL RESEARCH COUNCIL NEUROMUSCULAR CENTRE FOR TRANSLATIONAL RESEARCH MITOCHONDRIAL DISEASE PATIENT COHORT STUDY UK: FROM CONCEPTUALISATION TO UTILISATION (2013) (1)
Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations (2014) (1)
Mitochondrial Genetics and Sepsis (2009) (1)
Teaching Video NeuroImages: Muscle cramps and a raised creatine kinase (2014) (1)
P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family (2010) (1)
Clinical Diagnosis of Oxidative Phosphorylation Disorders (2004) (1)
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply (2012) (1)
Choosing drugs for UK COVID-19 treatment trials (2021) (1)
Clinical Reasoning: A 39-year-old man with abdominal cramps (2013) (1)
An unusual gait following the discovery of a new disease (2011) (1)
Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS–TDP (2021) (1)
Enteroviral Transverse Myelitis (2003) (1)
Heredity and segregation of mtDNA (2020) (1)
One complex world of mitochondrial parkinsonism. (2013) (1)
Title : Reduced CSF mitochondrial DNA is a biomarker for early-stage 1 Parkinson ’ s disease (2019) (1)
P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy (2011) (1)
POLG determines the risk of sodium valproate induced liver toxicity (2013) (1)
Precision mitochondrial medicine (2022) (1)
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain (2014) (1)
Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability (2013) (1)
Mitochondrial DNA analysis (2007) (1)
DRIVING AND STROKE. AUTHORS' REPLY (1997) (1)
STAT5B Mutation as a Cause of Growth Retardation Associated with Neuromuscular Symptoms (2015) (1)
Implications of mitochondrial DNA mutations in human induced pluripotent stem cells (2021) (1)
Mitochondrial Cardiovascular Diseases (2018) (1)
A.P.2 Proteomic profile of cytoplasmic bodies (CB) compared to non-CB aggregates in HMERF associated with mutations in A-band titin (2014) (1)
O.4 Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies (2013) (1)
A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems. (2016) (1)
Limbic encephalitis: Not a picture to forget (2004) (1)
Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation (2011) (1)
Table 2. [Molecular Genetic Testing Used in Leber Hereditary Optic Neuropathy (LHON)]. (2016) (1)
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (2019) (1)
Annotation: Mitochondrial genotype and clinical phenotype (1998) (1)
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia (2017) (1)
Increased yield of exome sequencing by off‐target mitochondrial DNA analysis (2015) (1)
Mitochondrial myopathies : deve lopments in treatment (2010) (1)
Supplementary File 4 (2014) (1)
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (1)
Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply (2008) (1)
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (1)
Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation (2003) (1)
Diagnostic Approach to Mitochondrial Diseases (2019) (1)
Erratum: Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies (The American Journal of Human Genetics (2015) 97 (754-6760)) (2015) (1)
Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures (2013) (1)
MOLECULAR MECHANISMS OF NEURODEGENERATIVE DISEASES.By Marie-Francoise Chesselet. 2000. Totowa: Humana Press. Price $125.00. Pp. 410. ISBN 0-89603-804-1. (2001) (1)
Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations (2018) (1)
T2 FSE and T2*MRI distinguish between four types of neurodegeneration with brain iron accumulation (2008) (1)
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome (2002) (1)
Mitochondrial DNA mutations and aging in human colonic crypts and stem cells (2003) (1)
Diagnosis and incidence of mitochondrial respiratory chain disease in adults (2000) (1)
M19 mtDNA polymorphic variants as metabolic hubs (2018) (1)
Reply: Heterozygous OPA1 mutations in Behr syndrome (2011) (1)
Detection and quantiﬁcation of mitochondrial DNA deletions in individual cells by real-time PCR (1)
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia (2016) (1)
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020) (1)
The age of single-gene neurological disorders is not dead. (2010) (1)
Topoisomerase 3 alpha is required for decatenation and segregation of human mitochondrial DNA. Nicholls et al. (2017) (0)
[Table, GeneReview Scope]. (2014) (0)
Mitochondrial genome-wide association study of Alzheimer's disease (2010) (0)
Reply to Lee and Sawcer (2010) (0)
Table 3. [Mitochondrial DNA Depletion Syndromes]. (2014) (0)
tremor Fragile X premutation presenting as essential (2008) (0)
D.P.2.02 Development of a nurse led multidisciplinary clinic for myotonic dystrophy type 1 (2008) (0)
1624 Myoclonus dystonia: a clinical and genetic description (2012) (0)
Mitochondrial DNA and neurodegeneration (2019) (0)
Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance (2008) (0)
Traumatic brain injury advances since 2017: what has changed? (2022) (0)
Neuroferritinopathy. (2020) (0)
tension glaucoma increases the risk of normal but not high OPA 1 (0)
Table 5. [POLG Allelic Variants Discussed in This GeneReview]. (2014) (0)
MYOCLONUS DYSTONIA: A CLINICAL AND GENETIC DESCRIPTION (2012) (0)
Redefining Wolfram syndrome in the molecular Era (2013) (0)
Clinical follow up in a large cohort of patients affected by Myotonic Dystrophy type (2008) (0)
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease (2023) (0)
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (2018) (0)
Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients. (2004) (0)
BRAIN Efﬁcient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy (2014) (0)
P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease (2012) (0)
Suppressed and quantal mtDNA segregation in heteroplasmic cell cultures (2008) (0)
Mitochondrial disease in neurology-Past, present, and future. (2023) (0)
Opportunities for mitochondrial disease gene therapy. (2023) (0)
Selective Inhibition of Mutant Mitochondrial DNA Replication (1997) (0)
Acknowledgement of Reviewers (2004) (0)
Investigation of metabolic myopathies. (2007) (0)
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains (2017) (0)
P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle (2011) (0)
Comprehensive North-East England CADASIL registry: disease burden and community impact (2009) (0)
100 Anti-retroviral exposure and somatic mitochondrial DNA mutations (2012) (0)
EXOME SEQUENCING IN THREE FAMILIES WITH CYTOPLASMIC BODY MYOPATHY WITH EARLY RESPIRATORY FAILURE (2012) (0)
cross-sectional study progressive external ophthalmoplegia : a supranuclear component in chronic Eye movement recordings to investigate a (0)
PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers. (2017) (0)
Mitochondrial disease: new prevalence figures with major resource implications (2004) (0)
Table 4. [Frequency of the Most Common POLG Pathogenic Variants]. (2014) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Clinical and genetic spectrum of myoclonus dystonia syndrome (2011) (0)
1353The Induction of Endotoxin Tolerance is Associated with the Activation of Mitochondrial Biogenesis in THP-1 Cells (2014) (0)
ARSACS, and SACS genetic screening should be considered. (2014) (0)
Table 3. [Visual Recovery Rates by Pathogenic Variant in Individuals with LHON]. (2016) (0)
Editorial: Mitochondrial medicine special issue (2021) (0)
Figure 1. [The human mitochondrial genome]. (2014) (0)
Table 3, [Selected FTL Pathogenic Allelic Variants]. (2010) (0)
O05 Exome sequencing in three families with cytoplasmic body myopathy with early respiratory failure (2012) (0)
Accelerating Detection of Disease (ADD) Platform Protocol Summary v2.2 by the ADD Science Task and Finish Group, February 2020 (2020) (0)
Table 4. [Lifetime Risk for Visual Failure...]. (2016) (0)
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
Table 3b. [Genetic Classification of Human Mitochondrial Disorders: Mutation of Mitochondrial DNA]. (2014) (0)
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
Did neuroferritinopathy originate in France (2002) (0)
Chapter 27 Facioscapulohumeral muscular dystrophy (2003) (0)
Biotin-Thiamine-Responsive Basal Ganglia Disease: A Rare But Treatable Cause Of Severe Necrotising Encephalopathy (2017) (0)
Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis (2022) (0)
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics (2022) (0)
Studying the molecular basis of the reversibility in infantile reversible cytochrome c oxidase deficiency (2012) (0)
Mitochondrial impairment and rescue in riboflavin responsive neuropathy (2017) (0)
Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency (2013) (0)
Supplementary file 6. (2014) (0)
Neuroferritinopathy: Genetics, clinical features, MR imaging, and neuropathology (2005) (0)
Title : Germline selection shapes the landscape of human mitochondrial DNA (2019) (0)
Argyrophilic grain disease as part of the fragile-X premutation syndrome (2007) (0)
Extreme heterogeneity of human mitochondrial DNA from organelles to populations (2020) (0)
IN61-TH-01 Mitochondrial disorders (2009) (0)
Correlation of mitochondrial copy number with cytochrome c oxidase histochemistry (2004) (0)
Molecular genetic analysis in a large cohort of patients with McArdle disease (2006) (0)
Lord Walton of Detchant: There and Back Again (2015) (0)
Table 1. [Respiratory Chain Dysfunction in LHON]. (2016) (0)
SYMPOSIUM: Mitochondria in Human Disease (2020) (0)
Genetic Evaluation of the Patient and Family (2014) (0)
Mitochondrial pathology in progressive cerebellar ataxia (2015) (0)
The SNCA locus in dementia with Lewy bodies (2010) (0)
Cracking the enigma of mitochondrial-DNA variants and cancer (2020) (0)
Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy (2011) (0)
Cranial MRI appearances in neuroferritinopathy (2004) (0)
M18 Understanding the mechanism underpinning the transmission of mtDNA mutations (2018) (0)
Left ventricular concentric hypertrophy and strain redirection in m . 3243 A > G mutation carriers : cardiomyopathy correlates with mutation load (2010) (0)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (2018) (0)
Cell lineage-specific mitochondrial resilience during mammalian organogenesis (2023) (0)
Supplementary file 5. (2014) (0)
P31 Genotypic and phenotypic heterogeneity in adult-onset progressive external ophthalmoplegia (PEO) with mitochondrial DNA instability: a systematic review (2014) (0)
G.P.3.04 Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients (2009) (0)
High prevalence of focal and multi-focal somatic genetic variants in the human brain (2018) (0)
Cell-Free Mitochondrial DNA in Acute Brain Injury (2022) (0)
OD03 Translating discovery science into treatments for patients: observational cohort studies at the MRC Centre for Neuromuscular Diseases (2018) (0)
Table 2. [Clinical Findings in POLG-Related Disorders]. (2014) (0)
161 15–30 Hz intermuscular coherence as a potential biomarker of upper motor neuron dysfunction in motor neuron disease (2012) (0)
Table 1. [Summary of Molecular Genetic Testing...]. (2014) (0)
Translating cutting edge science into novel and effective therapies. (2010) (0)
Table 2. [Clinical Findings in Individuals with Neuroferritinopathy]. (2010) (0)
Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA (2002) (0)
THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS (2017) (0)
Frequency and signature of somatic variants in 1461 human brain exomes (2018) (0)
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (2021) (0)
Mitochondrial disease (2020) (0)
Chapter 24 – Autosomal Dominant Optic Atrophy (2016) (0)
Table 3a. [Genetic Classification of Human Mitochondrial Disorders: Mutation of Nuclear DNA]. (2014) (0)
Mitochondrial disorders due to mutations in the nuclear genome (2020) (0)
NEUROSCIENCE FOR NEUROLOGISTS Mitochondria (2003) (0)
AJHG MS 43461 revised v 3 Mutant POLG 2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia (2008) (0)
AJHG MS 43461 revised v 3 Mutant POLG 2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia (2008) (0)
P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance (2014) (0)
Tournaments (2019) (0)
Characterisation of a novel neuroferritinopathy mutation in a French family (2008) (0)
Simulations of the random drift of intra-cellular mitochondrial DNA mutations (2002) (0)
P58 Evidence of early cardiac impairment in m.3243A>G mutation carriers (2012) (0)
Analysis of the ANT1 gene in progressive external ophthalmoplegia with multiple mtDNA deletions: identification of a novel mutation (2004) (0)
Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes (2021) (0)
P102 Fatal acute rhabdomyolysis in a young child due to pathogenic homozygous mutation in LPIN1 gene (2009) (0)
University of Birmingham Mitochondrial DNA and traumatic brain injury (2017) (0)
Detecting genes in complex disease: does phenotype accuracy limit the horizon? [reply] (2010) (0)
[704] MITOCHONDRIAL DNA HAPLOGROUPS ASSOCIATED WITH HISTOLOGICAL SEVERITY IN NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD) (2007) (0)
Fundamentals of DNA, Chromosomes, and Cells (2014) (0)
A novel autosomal dominant distal myopathy with early respiratory failure (2001) (0)
Idebenone treatment for Leber hereditary optic neuropathy — Past, present, and future (2013) (0)
Acknowledgement to referees 2003 (2004) (0)
Table 1. [Summary of Molecular Genetic Testing Used in POLG-Related Disorders]. (2014) (0)
Inherited mtDNA variations are not strong risk factors in human prion disease (2015) (0)
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (2019) (0)
Nuclear gene mutations impacting mitochondrial genome maintenance (2007) (0)
A case of progressive neuronal degeneration of childhood with severe mitochondrial respiratory chain deficiencies (2006) (0)
M20 Investigating the mechanisms involved in germline transmission of a heteroplasmic mtDNA variant (2018) (0)
SSIEM 2015 Annual Symposium (2015) (0)
P69 Old dicta and new techniques (2014) (0)
Genetic Reports Abstracts No evidence of substantia nigra telomere shortening in Parkinson's disease (2011) (0)
Reply (2008) (0)
Myotilinopathy – A report on four UK patients (2007) (0)
Mitochondrial DNA haplogrouping in non alcoholic fatty liver disease (NAFLD) (2006) (0)
Merm1: a novel regulator of mitochondrial transcription and function (2016) (0)
Structural and functional features of human auditor y-related cortex : Possible clues in the search for genetic links (2007) (0)
Table 2. [TTN Allelic Variants Discussed in This GeneReview]. (2014) (0)
Does Variation in Mitochondrial Haplogroups Associate with Alzheimer’s Disease? (2011) (0)
Mitofusin 2 (MFN2) Mutations Cause Mitochondrial DNA Instability In Charcot-Marie-Tooth Disease (2012) (0)
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts (2019) (0)
P47 A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy (2012) (0)
Mitochondrial DNA variation and Parkinson disease (2004) (0)
TOLL-LIKE RECEPTOR ANTAGONISM AS A NOVEL ANTI-INFLAMMATORY THERAPEUTIC APPROACH FOR DUCHENNE MUSCULAR DYSTROPHY (2015) (0)
018 Neuroferritinopathy: a new finding in a novel disease (2012) (0)
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA (2022) (0)
Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (2018) (0)
G.P.157 Clinical and pathological features associated with mutations in MICU1 (2014) (0)
Pursuit Eye Movements in Monkeys Signals That Modulate Gain Control for Smooth (2015) (0)
Table 4. [Frequency of the Most Common POLG Pathogenic Allelic Variants]. (2014) (0)
Response to Simon et al., (2017) (0)
2015 Scientific Meeting Faculty (2015) (0)
Reply from the editorialists (2020) (0)
D.P.2.03 Clinical follow up in a large cohort of patients affected by myotonic dystrophy type 1 (2008) (0)
When and how should neurologists test for mutations in POLG (2007) (0)
Occult gastro-intestinal cause of spastic paresis of the legs (2008) (0)
List of contributors. (2019) (0)
MITOCHONDRIAL OXODICARBOXYLATE CARRIER DEFICIENCY: METABOLIC MODELLING IDENTIFIES DISEASE MECHANISM (2017) (0)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2022) (0)
An Unusual Cause of Progressive Ataxia and Devastating Seizure Disorder (S20.003) (2016) (0)
Apolipoprotein E Gene Polymorphisms in Primary Open Angle Glaucoma (2003) (0)
On the classification, natural history and treatment of the myopathies' 50 years on: population study of muscle disease in the Northern region of England (2005) (0)
Title: Phenotypic variability of TRPV4 related neuropathies (2015) (0)
ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS? (2013) (0)
Contributors (2012) (0)
101 Systematic review of controlled trials in the treatment of mitochondrial disorders (2012) (0)
MtDNA genotype-phenotype associations found in the UKBiobank (2021) (0)
A GENETIC WEAKNESS—PHOENICIAN LEGACY OR CELTIC HERITAGE? (2014) (0)
P65 Systematic review of controlled trials in the treatment of mitochondrial disorders (2012) (0)
A pathogenic mutation in the accessory subunit of human polymerase γ associated with PEO impairs subunit interaction (2006) (0)
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism (2014) (0)
In This Issue (2016) (0)
Mitochondrial DNA maintenance and somatic mtDNA mutation (2015) (0)
Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro (2021) (0)
OP41 – 2848: Aminoacyl-tRNA synthetases (ARS) related inherited axonal neuropathies in the North England cohort of CMT patients (2015) (0)
Neuroferritinopathy: a new inborn error of iron metabolism (2012) (0)
Table 1. [Clinical Syndromes of Mitochondrial Diseases]. (2014) (0)
cell, monocyte, B and NK lymphoid deficiency Exome sequencing identifies GATA-2 mutation as the cause of dendritic (2013) (0)
Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains (2017) (0)
580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease (2022) (0)
P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? (2010) (0)
P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene (2014) (0)
P73 OPA1 codes for a mitochondrial fusion protein found on the inner mitochondrial membrane (2010) (0)
Cracking the enigma of mitochondrial-DNA variants and cancer (2020) (0)
MYASTHENIA GRAVIS AND RELATED DISORDERS (2003) (0)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (0)
M04 A feasibility study of bezafibrate in mitochondrial myopathy (2017) (0)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (0)
The prevalence of mitochondrial disease in the adult population (2015) (0)
Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism (2004) (0)
Mitochondrial disease and symptom progression: A complex management issue (2002) (0)
PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease (2010) (0)
List of Contributors. (2019) (0)
The Clinical and Genetic Features and Brain Imaging Findings in Mitochondrial Disease Patients Presenting with Movement Disorders (P1.076) (2016) (0)
Imputed mitochondrial DNA variants associated with more than one complex disease at p<0.05. (2014) (0)
Joint meeting of the Association of British Neurologists and the Norwegian Neurological Association on the coastal steamer Hurtigruten, 6-9 May 2001 (2001) (0)
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans (2023) (0)
CHAPTER 88 – METABOLIC MYOPATHIES (INCLUDING MITOCHONDRIAL DISEASES) (2007) (0)
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (2018) (0)
The Core Clinical Features of MTATP6-Related Mitochondrial Disease (S30.005) (2016) (0)
[abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults (2006) (0)
Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies (2015) (0)
274 Exome analysis to investigate autosomal dominant vasovagal syncope (2018) (0)
and DOUGLASS M TURNBULL patients with defects of mitochondrial DNA (1998) (0)
Mitochondrial DNA instability and dysregulated mitochondrial quality control contribute to progressive retinal ganglion cell loss in dominant optic atrophy (2015) (0)
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
Prevalence of mutations in Parkin, PINK1, and DJ-1 in early onset Parkinson's Disease - a community based and regional study [Conference Abstract] (2010) (0)
Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract] (2012) (0)
Table 2. [Epidemiology of Mitochondrial Disease]. (2014) (0)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
Is Psychiatric Disease a Core Phenotype of Myoclonus Dystonia Syndrome Caused by SGCE Mutations (2012) (0)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
Response to Simon et al., (2017) (0)
1465 Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome: the highly variable diagnostic journey (2021) (0)
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis (2022) (0)
Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery (2019) (0)
Treat iron-related childhood-onset neurodegeneration (TIRCON) work package 1: International patient registry for Neurodegeneration with Brain Iron Accumulation (NBIA) (2017) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Neuroferritinopathy]. (2010) (0)
P 3 P 3001 MITOCHONDRIAL GENOME-WIDE ASSOCIATION STUDYOFALZHEIMER ’ S DISEASE (2013) (0)

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