Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (46) 46
Publication (17) 17
Book / eBook (3) 3
Book Review (2) 2
Book Chapter (1) 1
Conference Proceeding (1) 1
Dissertation (1) 1
Newspaper Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (17) 17
mutation (9) 9
female (8) 8
mitochondria (8) 8
index medicus (7) 7
male (7) 7
adult (6) 6
mitochondrial dna (6) 6
genetics (5) 5
age of onset (4) 4
animals (4) 4
disease (4) 4
middle aged (4) 4
adolescent (3) 3
article (3) 3
dna, mitochondrial (3) 3
dna, mitochondrial - genetics (3) 3
genetic predisposition to disease (3) 3
genomics (3) 3
heterozygote (3) 3
leber hereditary optic neuropathy (3) 3
magnetic resonance imaging (3) 3
mitochondrial disease (3) 3
mitochondrial diseases (3) 3
mitochondrial diseases - genetics (3) 3
neurodegeneration (3) 3
neurosciences (3) 3
phenotype (3) 3
point mutation (3) 3
progressive external ophthalmoplegia (3) 3
tobacco (3) 3
young adult (3) 3
alcohol (2) 2
alcohol drinking - epidemiology (2) 2
azathioprine (2) 2
biopsy (2) 2
brain (2) 2
child (2) 2
china (2) 2
chinnery, george, 1774-1852 (2) 2
clinical neurology (2) 2
cohort studies (2) 2
diagnosis (2) 2
electron transport complex i (2) 2
encephalopathy (2) 2
environmental factors (2) 2
epigenetics (2) 2
eye diseases (2) 2
gene therapy (2) 2
genetic association studies (2) 2
genetic structures (2) 2
genetics & heredity (2) 2
india (2) 2
inflammatory bowel disease (2) 2
inherited mitochondrial disorders (2) 2
lactic-acidosis (2) 2
late-onset lhon (2) 2
leukoencephalopathy (2) 2
lhon (2) 2
medical research (2) 2
medicine (2) 2
medicine, experimental (2) 2
medicine, general & internal (2) 2
mitochondrial diseases - diagnosis (2) 2
mitochondrial encephalomyopathy (2) 2
mitochondrial neurogastrointestinal encephalopathy (2) 2
mitochondrial proteins (2) 2
mitochondrial proteins - genetics (2) 2
mtdna (2) 2
muscle, skeletal - pathology (2) 2
mutation - genetics (2) 2
optic atrophy (2) 2
optic atrophy, hereditary, leber - epidemiology (2) 2
optic atrophy, hereditary, leber - genetics (2) 2
precision medicine (2) 2
selection, genetic (2) 2
smoking (2) 2
smoking - epidemiology (2) 2
thymidine phosphorylase (2) 2
1774-1852 (1) 1
abdomen (1) 1
abridged index medicus (1) 1
acquisitions & mergers (1) 1
adults (1) 1
age (1) 1
age factors in disease (1) 1
aged (1) 1
aged, 80 and over (1) 1
alcohol drinking - adverse effects (1) 1
alcohol drinking - genetics (1) 1
alcohols (1) 1
algorithms (1) 1
arsacs (1) 1
articles (1) 1
artists, british (1) 1
ataxia (1) 1
azathioprine - adverse effects (1) 1
base composition (1) 1
base sequence (1) 1
bildband (1) 1
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Geneenvironment interactions in Leber hereditary optic neuropathy
by Kirkman, Matthew Anthony and Yu-Wai-Man, Patrick and Korsten, Alex and Leonhardt, Miriam and Dimitriadis, Konstantin and De Coo, Ireneaus F and Klopstock, Thomas and Chinnery, Patrick Francis
Brain, ISSN 0006-8950, 2009, Volume 132, Issue 9, pp. 2317 - 2326
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to... 
Epigenetics | Alcohol | Leber hereditary optic neuropathy | Tobacco | Mitochondrial DNA | alcohol | MITOCHONDRIAL-DNA MUTATIONS | DISCORDANT | mitochondrial DNA | CLINICAL EXPRESSION | SMOKING | LOCUS | NEUROSCIENCES | epigenetics | CLINICAL NEUROLOGY | PEDIGREES | DISEASE | tobacco | IDENTICAL-TWINS | EXPOSURE
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS
by Bargiela, D and Chinnery, Patrick Francis
ISSN 0304-3940, 2017
Mitochondrial dysfunction is associated with neuroinflammation and neurodegenerative disease, but its role as a driver in these processes is uncertain.... 
Harding’s disease | Mitochondria | Multiple sclerosis | Neurodegeneration | Neuroinflammation | Leber’s hereditary optic neuropathy | LHON-MS
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos
by Chinnery, Patrick Francis
ISSN 1465-7392, 2017
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
by Dimitriadis, Konstantin and Leonhardt, Miriam and Yu-Wai-Man, Patrick and Kirkman, Matthew A.nthony and Korsten, Alex and De Coo, Irenaeus F and Chinnery, Patrick F.rancis and Klopstock, Thomas
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 158 - 158
Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the... 
MEDICINE, RESEARCH & EXPERIMENTAL | Late-onset LHON | GENETICS & HEREDITY | LHON | TOO OLD | Environmental factors | MTDNA MUTATION | OCTOGENARIAN | Humans | Middle Aged | Optic Atrophy, Hereditary, Leber - epidemiology | Male | Optic Atrophy, Hereditary, Leber - genetics | Smoking - genetics | Alcohol Drinking - genetics | Alcohol Drinking - epidemiology | Smoking - epidemiology | Age of Onset | Adult | Female | Optic Atrophy, Hereditary, Leber - diagnosis | Illegal drugs | Medicine, Experimental | Medical research | Optic atrophy | Age factors in disease | Alcohols | Studies | Neurology | Tobacco | Disease | Mitochondrial DNA | Mutation | Drug therapy | Patients | Age | Acquisitions & mergers | Smoking | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease
by Patel, Ravi and Coulter, Lucia Lee and Rimmer, Joanna and Parkes, Miles and Chinnery, Patrick Francis and Swift, Oscar
BMC Gastroenterology, ISSN 1471-230X, 12/2019, Volume 19, Issue 1, pp. 1 - 5
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters,... 
Neuroimaging | Headache | Nuclear magnetic resonance--NMR | Transplants & implants | Liver | Genomes | Mitochondrial DNA | Thymidine | Genetic screening | Pain | Vomiting | Encephalopathy | Supplementation | Diagnosis | Thymidine phosphorylase | Deoxyribonucleic acid--DNA | Urine | Edema | Phenotypes | Diarrhea | Mesentery | Myalgia | Nucleic acids | Substantia alba | Pharynx | Fever | Phosphorylase | Abdomen | Inflammatory bowel disease | Magnetic resonance imaging | Biopsy | Pharyngitis | Mutation | Genetic testing | Azathioprine | Mitochondrial neurogastrointestinal encephalopathy | Inherited mitochondrial disorders | Crohn’s disease
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Monitoring Clinical Progression with Mitochondrial Disease Biomarkers
by Steele, HE and Horvath, Rita and Lyon, JJ and Chinnery, Patrick Francis
ISSN 0006-8950, 2017
Mitochondrial disorders are genetically determined metabolic diseases due to a biochemical deficiency of the respiratory chain. Given that multi-system... 
mitochondrial encephalomyopathy | mtDNA | biomarkers | disease progression | mitochondrial disease
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text High prevalence of focal and multi-focal somatic genetic variants in the human brain
by Keogh, Michael J and Wei, Wei and Aryaman, Juvid and Walker, Lauren and van den Ameele, Jelle and Coxhead, Jon and Wilson, Ian and Bashton, Matthew and Beck, Jon and West, John and Chen, Richard and Haudenschild, Christian and Bartha, Gabor and Luo, Shujun and Morris, Chris M and Jones, Nick S and Attems, Johannes and Chinnery, Patrick Francis
ISSN 2041-1723, 2018
Somatic mutations during stem cell division are responsible for several cancers. In principle, a similar process could occur during the intense cell... 
Genetic Variation | Brain | Genetic Predisposition to Disease | Reproducibility of Results | Genetic Association Studies | Humans | Clone Cells | Mutation | Genotyping Techniques
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
by Connor, TM and Hoer, Simon Sebastian and Mallett, A and Gale, DP and Gomez Duran, Aurora and Posse, V and Antrobus, R and Moreno, P and Sciacovelli, Marco and Frezza, Christian and Duff, J and Sheerin, NS and Sayer, JA and Ashcroft, Margaret and Wiesener, MS and Hudson, G and Gustafsson, CM and Chinnery, Patrick Francis and Maxwell, Patrick Henry
ISSN 1553-7390, 2017
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
by Kullar, Peter J and Gomez-Duran, Aurora and Gammage, Payam A and Garone, Caterina and Minczuk, Michal and Golder, Zoe and Wilson, Janet and Montoya, Julio and Häkli, Sanna and Kärppä, Mikko and Horvath, Rita and Majamaa, Kari and Chinnery, Patrick Francis
ISSN 0006-8950, 2018
The m.1555A>G mitochondrial DNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains
by Keogh, Michael J and Wei, Wei and Aryaman, Juvid and Wilson, Ian and Talbot, Kevin and Turner, Martin R and McKenzie, Chris-Anne and Troakes, Claire and Attems, Johannes and Smith, Colin and Al Sarraj, Safa and Morris, Chris M and Ansorge, Olaf and Pickering-Brown, Stuart and Jones, Nick and Ironside, James W and Chinnery, Patrick Francis
ISSN 0022-3050, 2018
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Prevalence of neurogenetic disorders in the North of England
by Bargiela, David and Yu-Wai-Man, Patrick and Keogh, Michael and Horvath, Rita and Chinnery, Patrick Francis
ISSN 0028-3878, 2015
Genetic Predisposition to Disease | Prevalence | Humans | England | Mutation | Movement Disorders | Mitochondrial Diseases | Nervous System Diseases
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Mitochondrial neurogastrointestinal encephalopathy: A clinicopathological mimic of Crohn's disease
by Patel, Ravi and Coulter, Lucia Lee and Rimmer, Joanna and Parkes, Miles and Chinnery, Patrick Francis and Swift, Oscar
BMC Gastroenterology, ISSN 1471-230X, 01/2019, Volume 19, Issue 1, pp. 11 - 11
BackgroundMitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters,... 
Inflammatory bowel disease | Inherited mitochondrial disorders | Mitochondrial neurogastrointestinal encephalopathy | Crohn's disease | Azathioprine | Leukoencephalopathy | Thymidine phosphorylase | MNGIE | ENCEPHALOMYOPATHY | GASTROENTEROLOGY & HEPATOLOGY | Deoxyuridine - blood | Diagnosis, Differential | Humans | Mitochondrial Encephalomyopathies - diagnosis | Thymidine - urine | Gastrointestinal Diseases - diagnosis | White Matter - pathology | Mitochondrial Encephalomyopathies - pathology | Point Mutation | Phenotype | Thymidine - blood | Thymidine Phosphorylase - genetics | Age of Onset | Crohn Disease - diagnosis | Deoxyuridine - urine | Gastrointestinal Diseases - pathology | Adult | Female | Retrospective Studies | Azathioprine - adverse effects | Complications and side effects | Medical research | Usage | Encephalopathy | Gastrointestinal system | Medicine, Experimental | Dosage and administration | Health aspects | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
by Boczonadi, Veronika and King, Martin and Smith, Anthony Colin and Olahova, Monika and Bansagi, Boglarka and Roos, Andreas and Eyassu, Filmon and Borchers, Christoph and Ramesh, Venkateswaran and Lochmüller, Hanns and Polvikoski, Tuomo and Whittaker, Roger G and Pyle, Angela and Griffin, Helen and Taylor, Robert W and Chinnery, Patrick Francis and Robinson, Alan Jonathan and Kunji, Edmund Richard and Horvath, Rita
ISSN 1098-3600, 2018
PURPOSE: To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease. METHODS:... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
by Keogh, MJ and Wei, W and Wilson, I and Coxhead, J and Ryan, S and Rollinson, S and Griffin, H and Kurzawa-Akanbi, M and Santibanez-Koref, M and Talbot, K and Turner, MR and McKenzie, C-A and Troakes, C and Attems, J and Smith, C and Al Sarraj, S and Morris, CM and Ansorge, O and Pickering-Brown, S and Ironside, JW and Chinnery, Patrick Francis
ISSN 1088-9051, 2017
Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue... 
neurodegeneration | genomics | exome
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text First-line genomic diagnosis of mitochondrial disorders
by Chinnery, Patrick Francis and Raymond, Frances Lucy
ISSN 1471-0056, 2018
Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing.... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
16. Full Text Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
by Feichtinger, RG and Oláhová, M and Kishita, Y and Garone, Caterina and Kremer, LS and Yagi, M and Uchiumi, T and Jourdain, AA and Thompson, K and D'Souza, AR and Kopajtich, R and Alston, CL and Koch, J and Sperl, W and Mastantuono, E and Strom, TM and Wortmann, SB and Meitinger, T and Pierre, G and Chinnery, Patrick Francis and Chrzanowska-Lightowlers, ZM and Lightowlers, RN and DiMauro, S and Calvo, SE and Mootha, VK and Moggio, M and Sciacco, M and Comi, GP and Ronchi, D and Murayama, K and Ohtake, A and Rebelo-Guiomar, P and Kohda, M and Kang, D and Mayr, JA and Taylor, RW and Okazaki, Y and Minczuk, Michal and Prokisch, H
ISSN 0002-9297, 2017
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is... 
MAM33 | multiple mtDNA deletions | myopathy | mitochondria | PEO | lactate | oxidative phosphorylation | progressive external ophthalmoplegia | p32
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
17. Full Text Oxygen in mitochondrial disease: can there be too much of a good thing?
by Mootha, Vamsi K and Chinnery, Patrick Francis
ISSN 1573-2665, 2018
Mitochondrial disorders are one of the most challenging collections of human diseases impacting nearly 1:4000 live births (Vafai and Mootha 2013; Stewart and... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
18. Full Text MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
by Ng, Yi Shiau and Lax, Nichola Z and Maddison, Paul and Alston, Charlotte L and Blakely, Emma L and Hepplewhite, Philippa D and Riordan, Gillian and Meldau, Surita and Chinnery, Patrick Francis and Pierre, Germaine and Chronopoulou, Efstathia and Du, Ailian and Hughes, Imelda and Morris, Andrew A and Kamakari, Smaragda and Chrousos, Georgia and Rodenburg, Richard J and Saris, Christiaan GJ and Feeney, Catherine and Hardy, Steven A and Sakakibara, Takafumi and Sudo, Akira and Okazaki, Yasushi and Murayama, Kei and Mundy, Helen and Hanna, Michael G and Ohtake, Akira and Schaefer, Andrew M and Champion, Mike P and Turnbull, Doug M and Taylor, Robert W and Pitceathly, Robert DS and McFarland, Robert and Gorman, Gráinne S
ISSN 2352-3964, 2018
Brain | Electron Transport Complex I | Humans | Male | Mitochondrial Proteins | Syndrome | Young Adult | Magnetic Resonance Imaging | Adolescent | Adult | Female | Mutation | Child | Cohort Studies
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
19. Full Text Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases
by Chinnery, Patrick Francis and Gomez-Duran, Aurora
ISSN 1662-4548, 2018
mtDNA is transmitted through the maternal line and its sequence variability, which is population specific, is assumed to be phenotypically neutral. However,... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
20. Full Text Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions
by Bargiela, David and Burr, Stephen Peter and Chinnery, Patrick Francis
ISSN 1043-2760, 2018
Alterations in mitochondrial metabolism influence cell differentiation and growth. This process is regulated by the activity of 2-oxoglutarate-dependent... 
Homeostasis | Hypoxia | Mitochondria | Cell Differentiation | Animals | Humans
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.