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Patrick Chinnery
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80
Turnbull, Douglass
40
Taylor, Robert
26
Howell, Neil
20
Hudson, Gavin
20
Samuels, David
16
Lightowlers, Robert
15
Keers, Sharon
14
Griffiths, Philip
13
Schaefer, Andrew
12
Elson, Joanna
12
Zeviani, Massimo
12
Blakely, Emma
10
Johnson, Margaret
9
Andrews, Richard
8
Brown, Denise
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All Publications
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2009: Samuels David C; Burn David J; Chinnery Patrick F
Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon?
Trends in genetics : TIG 2009;25(11):486-8.
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2009: Norwood Fiona L M; Harling Chris; Chinnery Patrick F; Eagle Michelle; Bushby Kate; Straub Volker
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
Brain : a journal of neurology 2009;132(Pt 11):3175-86.
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2009: Horvath Rita; Kemp John P; Tuppen Helen A L; Hudson Gavin; Oldfors Anders; Marie Suely K N; Moslemi Ali-Reza; Servidei Serenella; Holme Elisabeth; Shanske Sara; Kollberg Gittan; Jayakar Parul; Pyle Angela; Marks Harold M; Holinski-Feder Elke; Scavina Mena; Walter Maggie C; Coku Jorida; Günther-Scholz Andrea; Smith Paul M; McFarland Robert; Chrzanowska-Lightowlers Zofia M A; Lightowlers Robert N; Hirano Michio; Lochmüller Hanns; Taylor Robert W; Chinnery Patrick F; Tulinius Mar; DiMauro Salvatore
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
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2009: Pyle A; Ibbett I M; Gordon C; Keers S M; Walker M; Chinnery P F; Baudouin S V
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis.
Journal of medical genetics 2009;46(11):773-5.
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2009: Yu-Wai-Man Patrick; Davies Vanessa J; Piechota Malgorzata J; Cree Lynsey M; Votruba Marcela; Chinnery Patrick F
Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.
Investigative ophthalmology & visual science 2009;50(10):4561-6.
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2009: De Alwis Nimantha; Hudson Gavin; Burt Alastair D; Day Christopher P; Chinnery Patrick F
Human liver stem cells originate from the canals of Hering.
Hepatology (Baltimore, Md.) 2009;50(3):992-3.
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2009: Kirkman Matthew Anthony; Korsten Alex; Leonhardt Miriam; Dimitriadis Konstantin; De Coo Ireneaus F; Klopstock Thomas; Griffiths Philip G; Hudson Gavin; Chinnery Patrick F; Yu-Wai-Man Patrick
Quality of life in patients with leber hereditary optic neuropathy.
Investigative ophthalmology & visual science 2009;50(7):3112-5.
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2009: Fellous Tariq G; McDonald Stuart A C; Burkert Julia; Humphries Adam; Islam Shahriar; De-Alwis Nemantha M W; Gutierrez-Gonzalez Lydia; Tadrous Paul J; Elia George; Kocher Hemant M; Bhattacharya Satyajit; Mears Lisa; El-Bahrawy Mona; Turnbull Douglas M; Taylor Robert W; Greaves Laura C; Chinnery Patrick F; Day Christopher P; Wright Nicholas A; Alison Malcolm R
A methodological approach to tracing cell lineage in human epithelial tissues.
Stem cells (Dayton, Ohio) 2009;27(6):1410-20.
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2009: Goizet Cyril; Boukhris Amir; Durr Alexandra; Beetz Christian; Truchetto Jeremy; Tesson Christelle; Tsaousidou Maria; Forlani Sylvie; Guyant-Maréchal Lucie; Fontaine Bertrand; Guimarães João; Isidor Bertrand; Chazouillères Olivier; Wendum Dominique; Grid Djamel; Chevy Françoise; Chinnery Patrick F; Coutinho Paula; Azulay Jean-Philippe; Feki Imed; Mochel Fanny; Wolf Claude; Mhiri Chokri; Crosby Andrew; Brice Alexis; Stevanin Giovanni
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain : a journal of neurology 2009;132(Pt 6):1589-600.
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2009: Devos David; Tchofo P Jissendi; Vuillaume Isabelle; Destée Alain; Batey Stephanie; Burn John; Chinnery Patrick F
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
Brain : a journal of neurology 2009;132(Pt 6):e109.
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2009: Fellous Tariq G; Islam Shahriar; Tadrous Paul J; Elia George; Kocher Hemant M; Bhattacharya Satyajit; Mears Lisa; Turnbull Douglas M; Taylor Robert W; Greaves Laura C; Chinnery Patrick F; Taylor Geoffery; McDonald Stuart A C; Wright Nicholas A; Alison Malcolm R
Locating the stem cell niche and tracing hepatocyte lineages in human liver.
Hepatology (Baltimore, Md.) 2009;49(5):1655-63.
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2009: Hudson Gavin; Tiangyou Watcharee; Stutt Andrea; Eccles Martin; Robinson Louise; Burn David J; Chinnery Patrick F
No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2009;24(7):1092-4.
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2009: Bulst Stefanie; Abicht Angela; Holinski-Feder Elke; Müller-Ziermann Solvig; Koehler Udo; Thirion Christian; Walter Maggie C; Stewart Joanna D; Chinnery Patrick F; Lochmüller Hanns; Horvath Rita
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Human molecular genetics 2009;18(9):1590-9.
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2009: Shatunov Alexey; Olivé Montse; Odgerel Zagaa; Stadelmann-Nessler Christine; Irlbacher Kerstin; van Landeghem Frank; Bayarsaikhan Munkhuu; Lee Hee-Suk; Goudeau Bertrand; Chinnery Patrick F; Straub Volker; Hilton-Jones David; Damian Maxwell S; Kaminska Anna; Vicart Patrick; Bushby Kate; Dalakas Marinos C; Sambuughin Nyamkhishig; Ferrer Isidro; Goebel Hans H; Goldfarb Lev G
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
European journal of human genetics : EJHG 2009;17(5):656-63.
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2009: Stewart J D; Tennant S; Powell H; Pyle A; Blakely E L; He L; Hudson G; Roberts M; du Plessis D; Gow D; Mewasingh L D; Hanna M G; Omer S; Morris A A; Roxburgh R; Livingston J H; McFarland R; Turnbull D M; Chinnery P F; Taylor R W
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Journal of medical genetics 2009;46(3):209-14.
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2009: Wolny S; McFarland R; Chinnery P; Cheetham T
Abnormal growth in mitochondrial disease.
Acta paediatrica (Oslo, Norway : 1992) 2009;98(3):553-4.
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2009: Yu-Wai-Man P; Griffiths P G; Hudson G; Chinnery P F
Inherited mitochondrial optic neuropathies.
Journal of medical genetics 2009;46(3):145-58.
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2009: Whittaker R G; Blackwood J K; Alston C L; Blakely E L; Elson J L; McFarland R; Chinnery P F; Turnbull D M; Taylor R W
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
Neurology 2009;72(6):568-9.
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2009: Yu-Wai-Man Patrick; Gorman Grainne; Bateman David E; Leigh R John; Chinnery Patrick F
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.
Journal of neurology 2009;256(1):78-82.
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2009: McNeill Alisdair; Birchall Daniel; Straub Volker; Goldfarb Lev; Reilich Peter; Walter Maggie C; Schramm Nicolai; Lochmüller Hanns; Chinnery Patrick F
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
European neurology 2009;62(3):161-6.
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2009: Hudson Gavin; Yu-Wai-Man Patrick; Zeviani Massimo; Chinnery Patrick F
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
Molecular vision 2009;15():870-5.
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2008: Kirkman Matthew A; Yu-Wai-Man Patrick; Chinnery Patrick F
The clinical spectrum of mitochondrial genetic disorders.
Clinical medicine (London, England) 2008;8(6):601-6.
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2008: Stewart J D; Hudson G; Yu-Wai-Man P; Blakeley E L; He L; Horvath R; Maddison P; Wright A; Griffiths P G; Turnbull D M; Taylor R W; Chinnery P F
OPA1 in multiple mitochondrial DNA deletion disorders.
Neurology 2008;71(22):1829-31.
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2008: Wonnapinij Passorn; Chinnery Patrick F; Samuels David C
The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.
American journal of human genetics 2008;83(5):582-93.
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2008: Horvath Rita; Gorman Grainne; Chinnery Patrick F
How can we treat mitochondrial encephalomyopathies? Approaches to therapy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):558-68.
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2008: Gorman G; Fairgrieve S; Birchall D; Chinnery P F
Fragile X premutation presenting as essential tremor.
Journal of neurology, neurosurgery, and psychiatry 2008;79(10):1195-6.
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2008: Zsurka Gábor; Baron Miriam; Stewart Joanna D; Kornblum Cornelia; Bös Monika; Sassen Robert; Taylor Robert W; Elger Christian E; Chinnery Patrick F; Kunz Wolfram S
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
Journal of neuropathology and experimental neurology 2008;67(9):857-66.
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2008: Kent Lindsey; Gallagher Louise; Elliott Hannah R; Mowbray Catherine; Chinnery Patrick F
An investigation of mitochondrial haplogroups in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):987-9.
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2008: Yu-Wai-Man Patrick; Elliott Clive; Griffiths Philip G; Johnson Ian J; Chinnery Patrick F
Investigation of auditory dysfunction in Leber hereditary optic neuropathy.
Acta ophthalmologica 2008;86(6):630-3.
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2008: Elliott Hannah R; Samuels David C; Eden James A; Relton Caroline L; Chinnery Patrick F
Pathogenic mitochondrial DNA mutations are common in the general population.
American journal of human genetics 2008;83(2):254-60.
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2008: Cree L M; Patel S K; Pyle A; Lynn S; Turnbull D M; Chinnery P F; Walker M
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets.
Diabetologia 2008;51(8):1440-3.
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2008: Craig Kate; Takiyama Yoshihisa; Soong Bing-Wen; Jardim Laura B; Saraiva-Pereira Maria Luiza; Lythgow Kieren; Morino Hiroyuki; Maruyama Hirofumi; Kawakami Hideshi; Chinnery Patrick F
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
European journal of human genetics : EJHG 2008;16(7):841-7.
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2008: Yu-Wai-Man Patrick; Bateman David E; Hudson Gavin; Griffiths Philip G; Chinnery Patrick F
Leber hereditary optic neuropathy presenting in a 75-year-old man.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2008;28(2):155.
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2008: McNeill A; Birchall D; Hayflick S J; Gregory A; Schenk J F; Zimmerman E A; Shang H; Miyajima H; Chinnery P F
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.
Neurology 2008;70(18):1614-9.
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2008: Hudson Gavin; Mowbray Catherine; Elson Joanna L; Jacob Anu; Boggild Michael; Torroni Antonio; Chinnery Patrick F
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
Brain : a journal of neurology 2008;131(Pt 4):e93.
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2008: Nemes A; De Coo I F M; Spruijt L; Smeets H J M; Chinnery P F; Soliman O I I; Geleijnse M L; Ten Cate F J
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?
European journal of ophthalmology 2008;18(2):309-12.
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2008: Krishnan Kim J; Reeve Amy K; Samuels David C; Chinnery Patrick F; Blackwood John K; Taylor Robert W; Wanrooij Sjoerd; Spelbrink Johannes N; Lightowlers Robert N; Turnbull Doug M
What causes mitochondrial DNA deletions in human cells?
Nature genetics 2008;40(3):275-9.
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2008: Chinnery Patrick F; Zeviani Massimo
155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2008;18(3):259-67.
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2008: Rajasimha Harsha Karur; Chinnery Patrick F; Samuels David C
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.
American journal of human genetics 2008;82(2):333-43.
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2008: Cree Lynsey M; Samuels David C; de Sousa Lopes Susana Chuva; Rajasimha Harsha Karur; Wonnapinij Passorn; Mann Jeffrey R; Dahl Hans-Henrik M; Chinnery Patrick F
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
Nature genetics 2008;40(2):249-54.
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2008: McFarland R; Hudson G; Taylor R W; Green S H; Hodges S; McKiernan P J; Chinnery P F; Ramesh V
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).
Archives of disease in childhood 2008;93(2):151-3.
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2008: Hudson Gavin; Amati-Bonneau Patrizia; Blakely Emma L; Stewart Joanna D; He Langping; Schaefer Andrew M; Griffiths Philip G; Ahlqvist Kati; Suomalainen Anu; Reynier Pascal; McFarland Robert; Turnbull Douglass M; Chinnery Patrick F; Taylor Robert W
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Brain : a journal of neurology 2008;131(Pt 2):329-37.
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2008: Harrower Timothy; Stewart Joanna D; Hudson Gavin; Houlden Henry; Warner Graham; O'Donovan Dominic G; Findlay Leslie J; Taylor Robert W; De Silva Rajith; Chinnery Patrick F
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
Archives of neurology 2008;65(1):133-6.
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2008: Schaefer Andrew M; McFarland Robert; Blakely Emma L; He Langping; Whittaker Roger G; Taylor Robert W; Chinnery Patrick F; Turnbull Douglass M
Prevalence of mitochondrial DNA disease in adults.
Annals of neurology 2008;63(1):35-9.
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2007: Craig K; Elliott H R; Keers S M; Lambert C; Pyle A; Graves T D; Woodward C; Sweeney M G; Davis M B; Hanna M G; Chinnery P F
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
Journal of medical genetics 2007;44(12):797-9.
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2007: Asmus Friedrich; Devlin Anita; Munz Marita; Zimprich Alexander; Gasser Thomas; Chinnery Patrick F
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Movement disorders : official journal of the Movement Disorder Society 2007;22(14):2104-9.
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2007: McFarland R; Chinnery P F; Blakely E L; Schaefer A M; Morris A A M; Foster S M; Tuppen H A L; Ramesh V; Dorman P J; Turnbull D M; Taylor R W
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
Neurology 2007;69(9):911-6.
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2007: Goris An; Williams-Gray Caroline H; Clark Graeme R; Foltynie Thomas; Lewis Simon J G; Brown Joanne; Ban Maria; Spillantini Maria G; Compston Alastair; Burn David J; Chinnery Patrick F; Barker Roger A; Sawcer Stephen J
Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease.
Annals of neurology 2007;62(2):145-53.
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2007: Hudson Gavin; Carelli Valerio; Spruijt Liesbeth; Gerards Mike; Mowbray Catherine; Achilli Alessandro; Pyle Angela; Elson Joanna; Howell Neil; La Morgia Chiara; Valentino Maria Lucia; Huoponen Kirsi; Savontaus Marja-Liisa; Nikoskelainen Eeva; Sadun Alfredo A; Salomao Solange R; Belfort Rubens; Griffiths Philip; Man Patrick Yu Wai; de Coo Rene F M; Horvath Rita; Zeviani Massimo; Smeets Hubert J T; Torroni Antonio; Chinnery Patrick F
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
American journal of human genetics 2007;81(2):228-33.
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2007: Jaros E; Mahad D J; Hudson G; Birchall D; Sawcer S J; Griffiths P G; Sunter J; Compston D A S; Perry R H; Chinnery P F
Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy.
Neurology 2007;69(2):214-6.
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2007: Durham Steve E; Samuels David C; Cree Lynsey M; Chinnery Patrick F
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.
American journal of human genetics 2007;81(1):189-95.
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2007: Beetz Christian; Zuchner Stephan; Ashley-Koch Allison; Auer-Grumbach Michaela; Byrne Paula; Chinnery Patrick F; Hutchinson Michael; McDermott Christopher J; Meijer Inge A; Nygren Anders O H; Pericak-Vance Margaret; Pyle Angela; Rouleau Guy A; Schickel Jörg; Shaw Pamela J; Deufel Thomas
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Human mutation 2007;28(7):739-40.
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2007: Chinnery P F; Mowbray C; Patel S K; Elson J L; Sampson M; Hitman G A; McCarthy M I; Hattersley A T; Walker M
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls.
Journal of medical genetics 2007;44(6):e80.
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2007: Deschauer M; Morgenroth A; Joshi P R; Gläser D; Chinnery P F; Aasly J; Schreiber H; Knape M; Zierz S; Vorgerd M
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Journal of neurology 2007;254(6):797-802.
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2007: Craig Kate; Ferrari Gianfrancesco; Tiangyou Watcharee; Hudson Gavin; Gellera Cinzia; Zeviani Massimo; Chinnery Patrick F
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
Brain : a journal of neurology 2007;130(Pt 4):E69; author reply E70.
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2007: Hudson Gavin; Schaefer Andrew M; Taylor Robert W; Tiangyou Watcharee; Gibson Andrew; Venables Graham; Griffiths Philip; Burn David J; Turnbull Douglass M; Chinnery Patrick F
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
Archives of neurology 2007;64(4):553-7.
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2007: Chinnery Patrick F
Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
Brain : a journal of neurology 2007;130(Pt 3):606-9.
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2007: Jacobs Lorraine; Gerards Mike; Chinnery Patrick; Dumoulin John; de Coo Ireneaus; Geraedts Joep; Smeets Hubert
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.
Molecular human reproduction 2007;13(3):149-54.
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2007: Elson Joanna L; Majamaa Kari; Howell Neil; Chinnery Patrick F
Associating mitochondrial DNA variation with complex traits.
American journal of human genetics 2007;80(2):378-82; author reply 382-3.
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2007: Chinnery Patrick F; Crompton Douglas E; Birchall Daniel; Jackson Margaret J; Coulthard Alan; Lombès Anne; Quinn Niall; Wills Adrian; Fletcher Nicholas; Mottershead John P; Cooper Paul; Kellett Mark; Bates David; Burn John
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Brain : a journal of neurology 2007;130(Pt 1):110-9.
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2007: Chinnery Patrick F; Mowbray Catherine; Elliot Hannah; Elson Joanna L; Nixon Hannah; Hartley Judith; Shaw Pamela J
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis.
Neurogenetics 2007;8(1):65-7.
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2007: Pyle Angela; Taylor Robert W; Durham Steve E; Deschauer Marcus; Schaefer Andrew M; Samuels David C; Chinnery Patrick F
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.
Journal of medical genetics 2007;44(1):69-74.
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2007: Hudson Gavin; Carelli Valerio; Horvath Rita; Zeviani Massimo; Smeets Hubert J; Chinnery Patrick F
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Molecular vision 2007;13():2339-43.
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2006: Tiangyou W; Hudson G; Ghezzi D; Ferrari G; Zeviani M; Burn D J; Chinnery P F
POLG1 in idiopathic Parkinson disease.
Neurology 2006;67(9):1698-700.
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2006: Chinnery Patrick F; Vissing John
Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?
Neurology 2006;67(8):1330-2.
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2006: Hudson Gavin; Chinnery Patrick F
Mitochondrial DNA polymerase-gamma and human disease.
Human molecular genetics 2006;15 Spec No 2():R244-52.
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2006: Burn John; Chinnery Patrick F
Neuroferritinopathy.
Seminars in pediatric neurology 2006;13(3):176-81.
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2006: Durham Steve E; Brown Denise T; Turnbull Douglass M; Chinnery Patrick F
Progressive depletion of mtDNA in mitochondrial myopathy.
Neurology 2006;67(3):502-4.
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2006: Kent Lindsey; Lambert Claire; Pyle Angela; Elliott Hannah; Wheelwright Sally; Baron-Cohen Simon; Chinnery Patrick F
The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome.
The Journal of pediatrics 2006;149(2):280-1.
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2006: Brown D T; Herbert M; Lamb V K; Chinnery P F; Taylor R W; Lightowlers R N; Craven L; Cree L; Gardner J L; Turnbull D M
Transmission of mitochondrial DNA disorders: possibilities for the future.
Lancet 2006;368(9529):87-9.
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2006: Horvath Rita; Hudson Gavin; Ferrari Gianfrancesco; Fütterer Nancy; Ahola Sofia; Lamantea Eleonora; Prokisch Holger; Lochmüller Hanns; McFarland Robert; Ramesh V; Klopstock Thomas; Freisinger Peter; Salvi Fabrizio; Mayr Johannes A; Santer Rene; Tesarova Marketa; Zeman Jiri; Udd Bjarne; Taylor Robert W; Turnbull Douglass; Hanna Michael; Fialho Doreen; Suomalainen Anu; Zeviani Massimo; Chinnery Patrick F
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
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2006: Schaefer A M; Phoenix C; Elson J L; McFarland R; Chinnery P F; Turnbull D M
Mitochondrial disease in adults: a scale to monitor progression and treatment.
Neurology 2006;66(12):1932-4.
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2006: Longley Matthew J; Clark Susanna; Yu Wai Man Cynthia; Hudson Gavin; Durham Steve E; Taylor Robert W; Nightingale Simon; Turnbull Douglass M; Copeland William C; Chinnery Patrick F
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
American journal of human genetics 2006;78(6):1026-34.
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2006: Durham S E; Samuels D C; Chinnery P F
Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?
Neuromuscular disorders : NMD 2006;16(6):381-6.
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2006: Hudson G; Deschauer M; Taylor R W; Hanna M G; Fialho D; Schaefer A M; He L-P; Blakely E; Turnbull D M; Chinnery P F
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Neurology 2006;66(9):1439-41.
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2006: Yu Wai Man C Y; Smith T; Chinnery P F; Turnbull D M; Griffiths P G
Assessment of visual function in chronic progressive external ophthalmoplegia.
Eye (London, England) 2006;20(5):564-8.
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2006: Andrews R; Ressiniotis T; Turnbull D M; Birch M; Keers S; Chinnery P F; Griffiths P G
The role of mitochondrial haplogroups in primary open angle glaucoma.
The British journal of ophthalmology 2006;90(4):488-90.
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2006: Samuels David C; Carothers Andrew D; Horton Robin; Chinnery Patrick F
The power to detect disease associations with mitochondrial DNA haplogroups.
American journal of human genetics 2006;78(4):713-20.
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2006: Burn David J; Tiangyou Watcharee; Allcock Liesl M; Davison Jill; Chinnery Patrick F
Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease.
Parkinsonism & related disorders 2006;12(3):139-41.
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2006: Wilding Craig S; Cadwell Kevin; Tawn E Janet; Relton Caroline L; Taylor Geoffrey A; Chinnery Patrick F; Turnbull Douglass M
Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation.
Radiation research 2006;165(2):202-7.
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2006: Chinnery P; Majamaa K; Turnbull D; Thorburn D
Treatment for mitochondrial disorders.
Cochrane database of systematic reviews (Online) 2006;(1):CD004426.
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2005: Hudson Gavin; Keers Sharon; Yu Wai Man Patrick; Griffiths Philip; Huoponen Kirsi; Savontaus Marja-Liisa; Nikoskelainen Eeva; Zeviani Massimo; Carrara Franco; Horvath Rita; Karcagi Veronika; Spruijt Liesbeth; de Coo I F M; Smeets Hubert J M; Chinnery Patrick F
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
American journal of human genetics 2005;77(6):1086-91.
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2005: Baudouin Simon V; Saunders David; Tiangyou Watcharee; Elson Joanna L; Poynter Jayne; Pyle Angela; Keers Sharon; Turnbull Douglass M; Howell Neil; Chinnery Patrick F
Mitochondrial DNA and survival after sepsis: a prospective study.
Lancet 2005;366(9503):2118-21.
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2005: Craig Kate; Keers Sharon M; Walls Timothy J; Curtis Anne; Chinnery Patrick F
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.
Journal of the neurological sciences 2005;239(1):105-9.
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2005: Chinnery P F; Elliott H R; Patel S; Lambert C; Keers S M; Durham S E; McCarthy M I; Hitman G A; Hattersley A T; Walker M
Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes.
Lancet 2005;366(9497):1650-1.
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2005: Barron M J; Chinnery P F; Howel D; Blakely E L; Schaefer A M; Taylor R W; Turnbull D M
Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.
Neuromuscular disorders : NMD 2005;15(11):768-74.
-
2005: Howell Neil; Elson Joanna L; Chinnery Patrick F; Turnbull Douglass M
mtDNA mutations and common neurodegenerative disorders.
Trends in genetics : TIG 2005;21(11):583-6.
-
2005: Davies N P; Imbrici P; Fialho D; Herd C; Bilsland L G; Weber A; Mueller R; Hilton-Jones D; Ealing J; Boothman B R; Giunti P; Parsons L M; Thomas M; Manzur A Y; Jurkat-Rott K; Lehmann-Horn F; Chinnery P F; Rose M; Kullmann D M; Hanna M G
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Neurology 2005;65(7):1083-9.
-
2005: Birchall Daniel; von der Hagen Maja; Bates David; Bushby Kate M D; Chinnery Patrick F
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure.
Neuromuscular disorders : NMD 2005;15(9-10):595-600.
-
2005: Durham S E; Bonilla E; Samuels D C; DiMauro S; Chinnery P F
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
Neurology 2005;65(3):453-5.
-
2005: Chinnery Patrick F; DiMauro Salvatore
Mitochondrial hepatopathies.
Journal of hepatology 2005;43(2):207-9.
-
2005: Deschauer Marcus; Hudson Gavin; Müller Tobias; Taylor Robert W; Chinnery Patrick F; Zierz Stephan
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2005;15(4):311-5.
-
2005: Pyle Angela; Foltynie Thomas; Tiangyou Watcharee; Lambert Claire; Keers Sharon M; Allcock Liesl M; Davison Jill; Lewis Simon J; Perry Robert H; Barker Roger; Burn David J; Chinnery Patrick F
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.
Annals of neurology 2005;57(4):564-7.
-
2005: Chinnery Patrick F; Griffiths Philip G
Optic mitochondriopathies.
Neurology 2005;64(6):940-1.
-
2005: Hudson G; Deschauer M; Busse K; Zierz S; Chinnery P F
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
Neurology 2005;64(2):371-3.
-
2005: Yu Wai Man C Y; Chinnery P F; Griffiths P G
Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders.
Neuromuscular disorders : NMD 2005;15(1):17-23.
-
2005: Howell Neil; Kubacka Iwona; Keers Sharon M; Turnbull Douglass M; Chinnery Patrick F
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.
Human genetics 2005;116(1-2):28-32.
-
2005: Crompton Douglas E; Chinnery Patrick F; Bates David; Walls Timothy J; Jackson Margaret J; Curtis Andrew J; Burn John
Spectrum of movement disorders in neuroferritinopathy.
Movement disorders : official journal of the Movement Disorder Society 2005;20(1):95-9.
-
2005: Yu Wai Man C Y; Chinnery P F; Griffiths P G
Optic neuropathies--importance of spatial distribution of mitochondria as well as function.
Medical hypotheses 2005;65(6):1038-42.
-
2005: Ressiniotis Thomas; Griffiths Philip G; Keers Sharon M; Chinnery Patrick F; Birch Michael
A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians.
BMC ophthalmology 2005;5():5.
-
2004: Schaefer Andrew M; Taylor Robert W; Turnbull Douglass M; Chinnery Patrick F
The epidemiology of mitochondrial disorders--past, present and future.
Biochimica et biophysica acta 2004;1659(2-3):115-20.
-
2004: Ressiniotis Thomas; Griffiths Philip G; Birch Michael; Keers Sharon M; Chinnery Patrick F
Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma.
Molecular vision 2004;10():805-7.
-
2004: Samuels David C; Schon Eric A; Chinnery Patrick F
Two direct repeats cause most human mtDNA deletions.
Trends in genetics : TIG 2004;20(9):393-8.
-
2004: McDonnell Martina T; Schaefer Andrew M; Blakely Emma L; McFarland Robert; Chinnery Patrick F; Turnbull Douglass M; Taylor Robert W
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
European journal of human genetics : EJHG 2004;12(9):778-81.
-
2004: Chinnery P F; Keers S M; Holden M J; Ramesh V; Dalton A
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
Neurology 2004;63(4):710-2.
-
2004: Chinnery Patrick F; DiMauro Salvatore; Shanske Sara; Schon Eric A; Zeviani Massimo; Mariotti Caterina; Carrara Fanco; Lombes Anne; Laforet Pascal; Ogier Helène; Jaksch Michaela; Lochmüller Hanns; Horvath Rita; Deschauer Marcus; Thorburn David R; Bindoff Laurence A; Poulton Joanna; Taylor Robert W; Matthews John N S; Turnbull Douglass M
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
-
2004: Deschauer M; Chinnery P F; Schaefer A M; Turnbull D M; Taylor R W; Zierz S; Shanske S; DiMauro S; Majamaa K; Wilichowski E; Thorburn D R
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.
Journal of neurology, neurosurgery, and psychiatry 2004;75(8):1204-5.
-
2004: Lodi Raffaele; Rajagopalan Bheeshma; Blamire Andrew M; Crilley Jenifer G; Styles Peter; Chinnery Patrick F
Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy.
Biochimica et biophysica acta 2004;1657(2-3):146-50.
-
2004: Craig Kate; Keers Sharon M; Archibald Kate; Curtis Ann; Chinnery Patrick F
Molecular epidemiology of spinocerebellar ataxia type 6.
Annals of neurology 2004;55(5):752-5.
-
2004: Man P Y W; Howell N; Mackey D A; Nørby S; Rosenberg T; Turnbull D M; Chinnery P F
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
Journal of medical genetics 2004;41(4):e41.
-
2004: Ressiniotis T; Griffiths P G; Birch M; Keers S; Chinnery P F
Primary open angle glaucoma is associated with a specific p53 gene haplotype.
Journal of medical genetics 2004;41(4):296-8.
-
2004: McFarland Robert; Schaefer Andrew M; Gardner Julie L; Lynn Stephen; Hayes Christine M; Barron Martin J; Walker Mark; Chinnery Patrick F; Taylor Robert W; Turnbull Douglass M
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
Annals of neurology 2004;55(4):478-84.
-
2004: Chinnery Patrick F; Cottrell David A; Birchall Daniel; Griffiths Timothy D
Limbic encephalitis: Not a picture to forget.
Neurology 2004;62(6):1019.
-
2004: Ressiniotis Thomas; Griffiths Philip G; Birch Michael; Keers Sharon; Chinnery Patrick F
The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma.
Archives of ophthalmology 2004;122(2):258-61.
-
2004: Blakely E L; He L; Taylor R W; Chinnery P F; Lightowlers R N; Schaefer A M; Turnbull D M
Mitochondrial DNA deletion in "identical" twin brothers.
Journal of medical genetics 2004;41(2):e19.
-
2004: McFarland Robert; Taylor Robert W; Chinnery Patrick F; Howell Neil; Turnbull Douglass M
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
Neuromuscular disorders : NMD 2004;14(2):162-6.
-
2004: Chinnery Patrick F
New approaches to the treatment of mitochondrial disorders.
Reproductive biomedicine online 2004;8(1):16-23.
-
2004: Chinnery Patrick F; Cartlidge Niall E F; Tennant Stephen; Birchall Daniel; Stenhouse Su A R
Genetics in reverse.
Lancet 2004;363(9405):290.
-
2003: Howse Mathew L P; Wardell Theresa M; Fisher Christopher J; Tilley Peter J B; Chinnery Patrick F; Bindoff Laurence
Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
Muscle & nerve 2003;28(6):757-9.
-
2003: Taylor Robert W; Barron Martin J; Borthwick Gillian M; Gospel Amy; Chinnery Patrick F; Samuels David C; Taylor Geoffrey A; Plusa Stefan M; Needham Stephanie J; Greaves Laura C; Kirkwood Thomas B L; Turnbull Douglass M
Mitochondrial DNA mutations in human colonic crypt stem cells.
The Journal of clinical investigation 2003;112(9):1351-60.
-
2003: Chinnery P F; Bindoff L A;
116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2003;13(9):757-64.
-
2003: Chinnery Patrick F
Mitochondrial disorders come full circle.
Neurology 2003;61(7):878-80.
-
2003: Samuels David C; Boys Richard J; Henderson Daniel A; Chinnery Patrick F
A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate.
Nucleic acids research 2003;31(20):6043-52.
-
2003: Taylor Robert W; McDonnell Martina T; Blakely Emma L; Chinnery Patrick F; Taylor Geoffrey A; Howell Neil; Zeviani Massimo; Briem Egill; Carrara Franco; Turnbull Douglass M
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
-
2003: Chinnery P F; Schon E A
Mitochondria.
Journal of neurology, neurosurgery, and psychiatry 2003;74(9):1188-99.
-
2003: Richly Erik; Chinnery Patrick F; Leister Dario
Evolutionary diversification of mitochondrial proteomes: implications for human disease.
Trends in genetics : TIG 2003;19(7):356-62.
-
2003: Taylor R W; Jobling M S; Turnbull D M; Chinnery P F
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.
Journal of medical genetics 2003;40(7):e85.
-
2003: Chinnery P F; Howel D; Turnbull D M; Johnson M A
Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres.
Journal of the neurological sciences 2003;211(1-2):63-6.
-
2003: Chinnery P F; Curtis A R J; Fey C; Coulthard A; Crompton D; Curtis A; Lombés A; Burn J
Neuroferritinopathy in a French family with late onset dominant dystonia.
Journal of medical genetics 2003;40(5):e69.
-
2003: Capps Graham J; Samuels David C; Chinnery Patrick F
A model of the nuclear control of mitochondrial DNA replication.
Journal of theoretical biology 2003;221(4):565-83.
-
2003: Man P Y W; Morris C M; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.
Journal of medical genetics 2003;40(4):e41.
-
2003: Wardell Theresa M; Ferguson Elaine; Chinnery Patrick F; Borthwick Gillian M; Taylor Robert W; Jackson Graham; Craft Alan; Lightowlers Robert N; Howell Neil; Turnbull Douglass M
Changes in the human mitochondrial genome after treatment of malignant disease.
Mutation research 2003;525(1-2):19-27.
-
2003: Howell Neil; Smejkal Christy Bogolin; Mackey D A; Chinnery P F; Turnbull D M; Herrnstadt Corinna
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.
American journal of human genetics 2003;72(3):659-70.
-
2003: Chinnery Patrick F
Searching for nuclear-mitochondrial genes.
Trends in genetics : TIG 2003;19(2):60-2.
-
2003: Man P Y W; Griffiths P G; Brown D T; Howell N; Turnbull D M; Chinnery P F
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
American journal of human genetics 2003;72(2):333-9.
-
2002: Chinnery Patrick F
Inheritance of mitochondrial disorders.
Mitochondrion 2002;2(1-2):149-55.
-
2002: Crompton Douglas E; Chinnery Patrick F; Fey Constanze; Curtis Andrew R J; Morris Christopher M; Kierstan Jo; Burt Alistair; Young Fergus; Coulthard Alan; Curtis Ann; Ince Paul G; Bates David; Jackson Margaret J; Burn John
Neuroferritinopathy: a window on the role of iron in neurodegeneration.
Blood cells, molecules & diseases 2002;29(3):522-31.
-
2002: Elson Joanna L; Samuels David C; Johnson Margaret A; Turnbull Douglass M; Chinnery Patrick F
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy.
Neuromuscular disorders : NMD 2002;12(9):858-64.
-
2002: Chinnery Patrick F; Samuels David C; Elson Joanna; Turnbull Douglass M
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
Lancet 2002;360(9342):1323-5.
-
2002: Chinnery Patrick F; Walls Timothy J; Hanna Michael G; Bates David; Fawcett Peter R W
Normokalemic periodic paralysis revisited: does it exist?
Annals of neurology 2002;52(2):251-2.
-
2002: Spiropoulos John; Turnbull Douglass M; Chinnery Patrick F
Can mitochondrial DNA mutations cause sperm dysfunction?
Molecular human reproduction 2002;8(8):719-21.
-
2002: He Langping; Chinnery Patrick F; Durham Steve E; Blakely Emma L; Wardell Theresa M; Borthwick Gillian M; Taylor Robert W; Turnbull Douglass M
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.
Nucleic acids research 2002;30(14):e68.
-
2002: Choo-Kang Alan T W; Lynn Stephen; Taylor Geoffrey A; Daly Mark E; Sihota Sarbpreet S; Wardell Teressa M; Chinnery Patrick F; Turnbull Douglass M; Walker Mark
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
Diabetes 2002;51(7):2317-20.
-
2002: Man P Y W; Brown D T; Wehnert M S; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Neurology 2002;58(12):1861-2.
-
2002: Chinnery P F; Brown D T; Archibald K; Curtis A; Turnbull D M
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations.
Journal of medical genetics 2002;39(5):E22.
-
2002: Herrnstadt Corinna; Preston Gwen; Andrews Richard; Chinnery Patrick; Lightowlers Robert N; Turnbull Douglass M; Kubacka Iwona; Howell Neil
A high frequency of mtDNA polymorphisms in HeLa cell sublines.
Mutation research 2002;501(1-2):19-28.
-
2002: Chinnery Patrick F
Modulating heteroplasmy.
Trends in genetics : TIG 2002;18(4):173-6.
-
2002: Man P Y W; Turnbull D M; Chinnery P F
Leber hereditary optic neuropathy.
Journal of medical genetics 2002;39(3):162-9.
-
2002: Chinnery Patrick F; Reading Paul J; McCarthy Emma L; Curtis Ann; Burn David J
Late-onset axial jerky dystonia due to the DYT1 deletion.
Movement disorders : official journal of the Movement Disorder Society 2002;17(1):196-8.
-
2001: Curtis A R; Fey C; Morris C M; Bindoff L A; Ince P G; Chinnery P F; Coulthard A; Jackson M J; Jackson A P; McHale D P; Hay D; Barker W A; Markham A F; Bates D; Curtis A; Burn J
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Nature genetics 2001;28(4):350-4.
-
2001: Chinnery P F; Taylor D J; Manners D; Styles P; Lodi R
No correlation between muscle A3243G mutation load and mitochondrial function in vivo.
Neurology 2001;56(8):1101-4.
-
2001: Chinnery P F; Johnson M A; Walls T J; Gibson G J; Fawcett P R; Jamieson S; Fulthorpe J J; Cullen M; Hudgson P; Bushby K M
A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci.
Annals of neurology 2001;49(4):443-52.
-
2001: Elson J L; Samuels D C; Turnbull D M; Chinnery P F
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.
American journal of human genetics 2001;68(3):802-6.
-
2001: Chinnery P F; Taylor G A; Howell N; Brown D T; Parsons T J; Turnbull D M
Point mutations of the mtDNA control region in normal and neurodegenerative human brains.
American journal of human genetics 2001;68(2):529-32.
-
2001: Brown D T; Samuels D C; Michael E M; Turnbull D M; Chinnery P F
Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
American journal of human genetics 2001;68(2):533-6.
-
2001: Chinnery P F; Andrews R M; Turnbull D M; Howell N N
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
American journal of medical genetics 2001;98(3):235-43.
-
2001: Chinnery P F; Brown D T; Andrews R M; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth D A; Turnbull D M; Howell N
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2001;124(Pt 1):209-18.
-
2001: Chinnery P F; Jones S; Sviland L; Andrews R M; Parsons T J; Turnbull D M; Bindoff L A
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
Gut 2001;48(1):121-4.
-
2001: Elson J L; Andrews R M; Chinnery P F; Lightowlers R N; Turnbull D M; Howell N
Analysis of European mtDNAs for recombination.
American journal of human genetics 2001;68(1):145-153.
-
2001: Chinnery P F; Turnbull D M
Epidemiology and treatment of mitochondrial disorders.
American journal of medical genetics 2001;106(1):94-101.
-
2000: Chinnery P F; Turnbull D M
Mitochondrial DNA mutations in the pathogenesis of human disease.
Molecular medicine today 2000;6(11):425-32.
-
2000: Chinnery P F; Thorburn D R; Samuels D C; White S L; Dahl H M; Turnbull D M; Lightowlers R N; Howell N
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
Trends in genetics : TIG 2000;16(11):500-5.
-
2000: Chinnery P F; Johnson M A; Wardell T M; Singh-Kler R; Hayes C; Brown D T; Taylor R W; Bindoff L A; Turnbull D M
The epidemiology of pathogenic mitochondrial DNA mutations.
Annals of neurology 2000;48(2):188-93.
-
2000: Taylor R W; Chinnery P F; Turnbull D M; Lightowlers R N
In-vitro genetic modification of mitochondrial function.
Human reproduction (Oxford, England) 2000;15 Suppl 2():79-85.
-
2000: Chinnery P F; Taylor G A; Howell N; Andrews R M; Morris C M; Taylor R W; McKeith I G; Perry R H; Edwardson J A; Turnbull D M
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
Neurology 2000;55(2):302-4.
-
2000: Cottrell D A; Ince P G; Blakely E L; Johnson M A; Chinnery P F; Hanna M; Turnbull D M
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder.
Journal of neuropathology and experimental neurology 2000;59(7):621-7.
-
2000: Chinnery P F; Taylor D J; Brown D T; Manners D; Styles P; Lodi R
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo.
Annals of neurology 2000;47(3):381-4.
-
2000: Chinnery P F; Elliott C; Green G R; Rees A; Coulthard A; Turnbull D M; Griffiths T D
The spectrum of hearing loss due to mitochondrial DNA defects.
Brain : a journal of neurology 2000;123 ( Pt 1)():82-92.
-
1999: Andrews R M; Griffiths P G; Chinnery P F; Turnbull D M
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.
Eye (London, England) 1999;13 ( Pt 6)():769-72.
-
1999: Chinnery P F; Taylor R W; Diekert K; Lill R; Turnbull D M; Lightowlers R N
Peptide nucleic acid delivery to human mitochondria.
Gene therapy 1999;6(12):1919-28.
-
1999: Andrews R M; Kubacka I; Chinnery P F; Lightowlers R N; Turnbull D M; Howell N
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
Nature genetics 1999;23(2):147.
-
1999: Andrews R M; McNeela B J; Reading P; Griffiths P G; Chinnery P F; Turnbull D M
Mitochondrial DNA disease masquerading as age-related mascular degeneration.
Eye (London, England) 1999;13 ( Pt 4)():595-6.
-
1999: Chinnery P F; Zwijnenburg P J; Walker M; Howell N; Taylor R W; Lightowlers R N; Bindoff L; Turnbull D M
Nonrandom tissue distribution of mutant mtDNA.
American journal of medical genetics 1999;85(5):498-501.
-
1999: Chinnery P F; Turnbull D M
Mitochondrial DNA and disease.
Lancet 1999;354 Suppl 1():SI17-21.
-
1999: Chinnery P F; Howell N; Andrews R M; Turnbull D M
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
Journal of medical genetics 1999;36(7):505-10.
-
1999: Chinnery P F; Howell N; Andrews R M; Turnbull D M
Clinical mitochondrial genetics.
Journal of medical genetics 1999;36(6):425-36.
-
1999: Clark K M; Taylor R W; Johnson M A; Chinnery P F; Chrzanowska-Lightowlers Z M; Andrews R M; Nelson I P; Wood N W; Lamont P J; Hanna M G; Lightowlers R N; Turnbull D M
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.
American journal of human genetics 1999;64(5):1330-9.
-
1999: Chinnery P F; Samuels D C
Relaxed replication of mtDNA: A model with implications for the expression of disease.
American journal of human genetics 1999;64(4):1158-65.
-
1998: Chinnery P F; Howell N; Lightowlers R N; Turnbull D M
Genetic counseling and prenatal diagnosis for mtDNA disease.
American journal of human genetics 1998;63(6):1908-11.
-
1998: Lynn S; Wardell T; Johnson M A; Chinnery P F; Daly M E; Walker M; Turnbull D M
Mitochondrial diabetes: investigation and identification of a novel mutation.
Diabetes 1998;47(11):1800-2.
-
1998: Chinnery P F; Howell N; Lightowlers R N; Turnbull D M
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
Brain : a journal of neurology 1998;121 ( Pt 10)():1889-94.
-
1998: Chinnery P F; Turnbull D M; Howell N; Andrews R M
Mitochondrial DNA mutations and pathogenicity.
Journal of medical genetics 1998;35(8):701-2.
-
1998: Taylor R W; Chinnery P F; Bates M J; Jackson M J; Johnson M A; Andrews R M; Turnbull D M
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.
Biochemical and biophysical research communications 1998;243(1):47-51.
-
1997: Chinnery P F; Turnbull D M
Mitochondrial medicine.
QJM : monthly journal of the Association of Physicians 1997;90(11):657-67.
-
1997: Lightowlers R N; Chinnery P F; Turnbull D M; Howell N
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Trends in genetics : TIG 1997;13(11):450-5.
-
1997: Chinnery P F; Howell N; Lightowlers R N; Turnbull D M
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Brain : a journal of neurology 1997;120 ( Pt 10)():1713-21.
-
1997: Chinnery P F; Johnson M A; Taylor R W; Durward W F; Turnbull D M
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.
Neurology 1997;49(4):1166-8.
-
1997: Chinnery P F; Reading P J; Milne D; Gardner-Medwin D; Turnbull D M
CSF antigliadin antibodies and the Ramsay Hunt syndrome.
Neurology 1997;49(4):1131-3.
-
1997: Chinnery P F; Turnbull D M; Walls T J; Reading P J
Recurrent strokes in a 34-year-old man.
Lancet 1997;350(9077):560.
-
1997: Newkirk J E; Taylor R W; Howell N; Bindoff L A; Chinnery P F; Alberti K G; Turnbull D M; Walker M
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.
Diabetic medicine : a journal of the British Diabetic Association 1997;14(6):457-60.
-
1997: Taylor R W; Chinnery P F; Clark K M; Lightowlers R N; Turnbull D M
Treatment of mitochondrial disease.
Journal of bioenergetics and biomembranes 1997;29(2):195-205.
-
1997: Chinnery P F; Johnson M A; Taylor R W; Lightowlers R N; Turnbull D M
A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
Annals of neurology 1997;41(3):408-10.
-
1997: Taylor R W; Chinnery P F; Turnbull D M; Lightowlers R N
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.
Nature genetics 1997;15(2):212-5.
-
1996: Taylor R W; Chinnery P F; Haldane F; Morris A A; Bindoff L A; Wilson J; Turnbull D M
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Annals of neurology 1996;40(3):459-62.
-
1990: Bradley P M; Burns D B; Chinnery P F; Webb A C
Connections of the IMHV in the domestic chick Gallus domesticus.
Proceedings of the Royal Society of London. Series B, Containing papers of a Biological character. Royal Society (Great Britain) 1990;240(1299):493-502.
-
1990: Bradley P M; Burns B D; Chinnery P F; Webb A C
Local circuitry in the IMHV of the domestic chick (Gallus domesticus).
Proceedings of the Royal Society of London. Series B, Containing papers of a Biological character. Royal Society (Great Britain) 1990;240(1299):479-92.
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