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Patrick Chinnery

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David Samuels; Passorn Wonnapinij; Patrick F Chinnery
Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?
Grant Guthrie; Rita Horvath; Gerald Pfeffer; Maura Bailie; Karen Bradshaw; Andrew C Browning; Patrick F Chinnery; Patrick Yu-Wai-Man
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
Deborah Bathgate; Grainne Gorman; Rita Horvath; Ralph Wigley; Patrick F Chinnery
Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity.

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All Publications

2013: David Samuels; Passorn Wonnapinij; Patrick F Chinnery
Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer?
Human reproduction (Oxford, England) 2013;28(3):554-9.
2013: Grant Guthrie; Rita Horvath; Gerald Pfeffer; Maura Bailie; Karen Bradshaw; Andrew C Browning; Patrick F Chinnery; Patrick Yu-Wai-Man
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
Journal of neurology 2013;260(3):906-9.
2013: Deborah Bathgate; Grainne Gorman; Rita Horvath; Ralph Wigley; Patrick F Chinnery
Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity.
Annals of neurology 2013;73(2):317-8.
2013: Michael J Keogh; Patrick F Chinnery
How to spot mitochondrial disease in adults.
Clinical medicine (London, England) 2013;13(1):87-92.
2013: Thomas Klopstock; T Meier; Günther Metz; N Nwali; L Reznicek; J Rouleau; B von Livonius; P Yu-Wai-Man; M Bailie; B Büchner; N Coppard; C Gallenmüller; Philip G Griffiths; Patrick F Chinnery
Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2013;136(Pt 2):e230.
2013: Beril Talim; Aysegul Tokatli; Haluk Topaloglu; Patrick F Chinnery; Helen Griffin; Michael J Keogh; Angela Pyle; Mauro Santibanez-Koref; Rita Horvath
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
Brain : a journal of neurology 2013;136(Pt 2):e228.
2013: Gerald Pfeffer; Patrick F Chinnery
Diagnosis and treatment of mitochondrial myopathies.
Annals of medicine 2013;45(1):4-16.
2013: Brendan A I Payne; David Samuels; Mauro Santibanez-Koref; Robert W Taylor; Ian J Wilson; Patrick Yu-Wai-Man; Jonathan Coxhead; David Deehan; Rita Horvath; Patrick F Chinnery
Universal heteroplasmy of human mitochondrial DNA.
Human molecular genetics 2013;22(2):384-90.
2013: Anais Thouin; Patrick F Chinnery; Philip G Griffiths; Gavin Hudson; Patrick Yu-Wai-Man
Raised intraocular pressure as a potential risk factor for visual loss in leber hereditary optic neuropathy.
PloS one 2013;8(5):e63446.
2013: Adela Della Marina; Claudia Möller-Hartmann; Angela Pyle; Mauro Santibanez-Koref; Ulrike Schara; Angela Abicht; Patrick F Chinnery; Birgit Czermin; Helen Griffin; Elke Holinski-Feder; Hanns Lochmüller; Rita Horvath
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.
JIMD reports 2013;10():17-22.
2013: Kathryn J Peall; Michael Samuel; Daniel J Smith; Martin Smith; Adrian J Waite; Mark Wardle; Thomas T Warner; Cathy White; Alan Whone; Narinder Bajaj; Derek J Blake; Patrick F Chinnery; Tammy Hedderly; Philip Jardine; Mary D King; George Kirov; Manju A Kurian; Jean-Pierre Lin; Andrew Lux; Bryan Lynch; Timothy Lynch; Sean O'Riordan; Michael J Owen; Hardev Pall; Huw R Morris
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Brain : a journal of neurology 2013;136(Pt 1):294-303.
2013: Gavin Hudson; John Loughlin; Andrew McCaskie; William E R Ollier; Kalliope Panoutsopoulou; Stuart H Ralston; Nigel W Rayner; Mike R Reed; David Samuels; Lorraine Southam; Tim D Spector; Ana M Valdes; Gillian A Wallis; J Mark Wilkinson; Ian Wilson; Eleftheria Zeggini; Nigel Arden; Fraser Birrell; Ian Carluke; Andrew Carr; Kay Chapman; Patrick F Chinnery; Panos Deloukas; Michael Doherty
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
Annals of the rheumatic diseases 2013;72(1):136-9.
2013: Ilse S Pienaar; Patrick F Chinnery
Existing and emerging mitochondrial-targeting therapies for altering Parkinson's disease severity and progression.
Pharmacology & therapeutics 2013;137(1):1-21.
2012: Vivienne C M Neeve; Carsten Saft; David Samuels; Hubert Smeets; Jan Smeitink; Bart W Smits; Robert W Taylor; Doug M Turnbull; Bianca van den Bosch; Gert Van Goethem; Angela Abicht; Laurence A Bindoff; Patrick F Chinnery; Birgit Czermin; I F M de Coo; Maaike De Vries; Salvatore DiMauro; Grainne G Gorman; Michio Hirano; Elke Holinski-Feder; Gavin Hudson; Claude Jardel; Bianca-Cortina Keiling; Thomas Klopstock; Hanns Lochmüller; Anne Lombès; Rita Horvath
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Brain : a journal of neurology 2012;135(Pt 12):3614-26.
2012: Angela Pyle; Rita Horvath; Patrick F Chinnery
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply.
Archives of neurology 2012;69(12):1661-2.
2012: Robert D S Pitceathly; Ute Pohl; Joanna Poulton; Mark E Roberts; Andrew M Schaefer; Zarfishan Shabbir; Conrad Smith; John Taylor; Robert W Taylor; Douglass M Turnbull; Peter D Turnpenny; Charlotte L Alston; Emma L Blakely; Patrick F Chinnery; Kate Craig; Marcus Deschauer; Julie C Evans; Carl Fratter; Christopher A Halfpenny; Michael G Hanna; Langping He; Rita Horvath; Matthew C Jackson; Peter W Lunt; Robert McFarland; Gráinne S Gorman
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Brain : a journal of neurology 2012;135(Pt 11):3392-403.
2012: Christoph Freyer; Erik Hagström; Camilla Koolmeister; Nils-Göran Larsson; Dusanka Milenkovic; Arnaud Mourier; David Samuels; James Bruce Stewart; Timothy Wai; Rudolf J Wiesner; Emmanouella E Chatzidaki; Lynsey M Cree; Vasileios I Floros; Patrick F Chinnery
Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.
Nature genetics 2012;44(11):1282-5.
2012: Kamil S Sitarz; Robert W Taylor; Gitte J Almind; Patrick F Chinnery; Birgit Czermin; Karen Grønskov; Rita Horvath; Michael Larsen; Angela Pyle; Patrick Yu-Wai-Man
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.
Neurology 2012;79(14):1515-7.
2012: Stephan Klebe; Elodie Lejeune; Cecilia Mancini; Jean-Michel Mayer; Elisabeth Ollagnon; Jean-Michel Rozet; Jérôme de Seze; Guilhem Sole; Giovanni Stevanin; Mathieu Anheim; Alexis Brice; Alfredo Brusco; Philippe Busson; Cécile Cazeneuve; Georges Challe; Perrine Charles; Patrick F Chinnery; Michel Clanet; Julien Cottineau; Christel Depienne; Alain Destée; Hélène Dollfus; Estelle Fedirko; Xavier Ferrer; Bertrand Fontaine; Sylvie Gerber; Josseline Kaplan; Alexandra Durr
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Brain : a journal of neurology 2012;135(Pt 10):2980-93.
2012: Laura L Kilarski; M Duleeka W Knipe; Alistair J Lewthwaite; Elisa Majounie; Marie-Helene Marion; Anjum Misbahuddin; Roger A Barker; Yoav Ben-Shlomo; David J Burn; Patrick F Chinnery; Carl E Clarke; Jonathan R Evans; Karen E Morrison; Victoria Newsway; David J Nicholl; Justin P Pearson; Stephen J Sawcer; Mirdhu M Wickremaratchi; Nigel M Williams; Caroline H Williams-Gray; Nicholas W Wood; Huw R Morris
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2012;27(12):1522-9.
2012: Marzena Kurzawa-Akanbi; Debra J Lett; Ian G McKeith; Peter G Blain; Patrick F Chinnery; Peter S Hanson; Christopher M Morris
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
Journal of neurochemistry 2012;123(2):298-309.
2012: Angela Pyle; Mauro Santibanez-Korev; Patrick Yu-Wai-Man; Jennifer Duff; Gail Eglon; Helen Griffin; Rita Horvath; Stuart Pickering-Brown; Patrick F Chinnery
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.
Archives of neurology 2012;69(10):1351-4.
2012: Stefanie Bulst; Patrick F Chinnery; Elke Holinski-Feder; Sabine Krause; Hanns Lochmüller; Brendan Payne; Maggie C Walter; Angela Abicht; Rita Horvath
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.
Molecular genetics and metabolism 2012;107(1-2):95-103.
2012: Gerald Pfeffer; David Samuels; Robert W Taylor; Adam Hassani; Rita Horvath; Charlotte L Alston; Emma L Blakely; Mike Boggild; Patrick F Chinnery
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Journal of neurology, neurosurgery, and psychiatry 2012;83(9):883-6.
2012: Alisdair McNeill; Patrick F Chinnery
Neuroferritinopathy: update on clinical features and pathogenesis.
Current drug targets 2012;13(9):1200-3.
2012: Kamil S Sitarz; Joanna D Stewart; Patrick Yu-Wai-Man; Rita Horvath; Angela Pyle; Bernd Rautenstrauss; Mary M Reilly; Pavel Seeman; Patrick F Chinnery
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Brain : a journal of neurology 2012;135(Pt 8):e219, 1-3; author reply e220, 1-3.
2012: Gavin Hudson; Brendan I A Payne; David Samuels; Mauro Santibanez-Korev; Ian Wilson; Joanna Elson; Stephen J G Hall; Patrick F Chinnery
Unique mitochondrial DNA in highly inbred feral cattle.
Mitochondrion 2012;12(4):438-40.
2012: Kieren G Hollingsworth; Guy A MacGowan; Robert McFarland; Robert W Taylor; Michael I Trenell; Douglass M Turnbull; Andrew M Blamire; Grainne S Gorman; Patrick F Chinnery
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.
Neuromuscular disorders : NMD 2012;22(7):592-6.
2012: Michael J Keogh; Patrick F Chinnery
Current concepts and controversies in neurodegeneration with brain iron accumulation.
Seminars in pediatric neurology 2012;19(2):51-6.
2012: Gerald Pfeffer; Mauro Santibanez-Koref; Volker Straub; Bjarne Udd; Anna Vihola; Rita Barresi; David J Dick; Hannah R Elliott; Anni Evilä; Helen Griffin; Peter Hackman; Rita Horvath; Julie Marsh; James Miller; Patrick F Chinnery
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Brain : a journal of neurology 2012;135(Pt 6):1695-713.
2012: Kamil S Sitarz; Patrick F Chinnery; Patrick Yu-Wai-Man
Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.
Current neurology and neuroscience reports 2012;12(3):308-17.
2012: Rita Horvath; Gavin Hudson; Bernard Keavney; Jörg Kortler; Hanns Lochmüller; John Loughlin; Vivienne C M Neeve; Birgit Neitzel; Gudrun Nürnberg; Peter Nürnberg; Angela Pyle; Thahira Rahman; Mauro Santibanez-Koref; Benedikt Schoser; Bernd Rautenstrauss; Charlotte Foley; Helen Griffin; Sophie Hambleton; Elke Holinski-Feder; Deephthi Ashok; Ingelore Bässmann; Patrick F Chinnery
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Movement disorders : official journal of the Movement Disorder Society 2012;27(6):789-93.
2012: Charlotte Foley; Geraldine Bailey; Patrick F Chinnery; Gail Eglon; Ian Schofield; Rita Horvath
Charcot-Marie-Tooth disease in Northern England.
Journal of neurology, neurosurgery, and psychiatry 2012;83(5):572-3.
2012: G Hudson; N Jones; V Moskvina; M C O'Donovan; M J Owen; G Russo; R Sims; A Stretton; C Thomas; J Williams; J Chapman; Patrick F Chinnery; A Gerrish; M Hamshere; Denise Harold; P Hollingworth; P A Holmans
No consistent evidence for association between mtDNA variants and Alzheimer disease.
Neurology 2012;78(14):1038-42.
2012: Gavin Charlesworth; Patrick F Chinnery; Sonia Gandhi; Stephen M Gentleman; Rita Guerreiro; John Hardy; Janice L Holton; Andrew J Lees; Huw Morris; Karen Morrison; Tamas Revesz; Una-Marie Sheerin; Nigel Williams; Roger A Barker; Jose M Bras; David J Burn; Nicholas W Wood
Tau acts as an independent genetic risk factor in pathologically proven PD.
Neurobiology of aging 2012;33(4):838.e7-11.
2012: Patrick F Chinnery; Hannah R Elliott; Gavin Hudson; David Samuels; Caroline L Relton
Epigenetics, epidemiology and mitochondrial DNA diseases.
International journal of epidemiology 2012;41(1):177-87.
2012: Michael J Keogh; Patrick F Chinnery; Alan Coulthard; Patricia Jonas; John Burn
Neuroferritinopathy: a new inborn error of iron metabolism.
Neurogenetics 2012;13(1):93-6.
2012: Sophie E Winder-Rhodes; Caroline H Williams-Gray; Liesl M Allcock; Maria Ban; Roger A Barker; David J Burn; Patrick F Chinnery; Jonathan R Evans; Thomas Foltynie; Pablo Garcia-Reitböck; Gavin Hudson; Thomas S Jacques; Anu Kemppinen; Stephen J Sawcer; Maria Grazia Spillantini
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
Movement disorders : official journal of the Movement Disorder Society 2012;27(2):312-5.
2012: Kamil S Sitarz; Patrick Yu-Wai-Man; Mike Boggild; Rita Horvath; Gavin Hudson; Anu Jacob; Patrick F Chinnery
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
Multiple sclerosis (Houndmills, Basingstoke, England) 2012;18(2):240-3.
2012: Anton K Raap; Harsha K Rajasimha; Raimond B G Ravelli; David Samuels; Karoly Szuhai; Frans M van de Rijke; Carolina Wählby; Patrick F Chinnery; René F M de Coo; Roshan S Jahangir Tafrechi; Mats Nilsson; Angela Pyle; George M C Janssen
Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.
PloS one 2012;7(12):e52080.
2012: Gerald Pfeffer; David Thorburn; Douglass M Turnbull; Kari Majamaa; Patrick F Chinnery
Treatment for mitochondrial disorders.
Cochrane database of systematic reviews (Online) 2012;4():CD004426.
2012: Patrick Yu-Wai-Man; Patrick F Chinnery
Dysfunctional mitochondrial maintenance: what breaks the circle of life?
Brain : a journal of neurology 2012;135(Pt 1):9-11.
2012: Freya E Cooper; Philip English; Patrick F Chinnery; Manon Grube; Thomas P Kelly; Sukhbinder Kumar; Katharina von Kriegstein; Timothy D Griffiths
Distinct critical cerebellar subregions for components of verbal working memory.
Neuropsychologia 2012;50(1):189-97.
2011: A M Voets; S V Baudouin; Patrick F Chinnery; Debby M E I Hellebrekers; A T M Hendrickx; A Pyle; Alphons P M Stassen; Guy Van Camp; B J C van den Bosch; E Van Eyken; Lut Van Laer; H J M Smeets
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
Mitochondrion 2011;11(6):964-72.
2011: Gavin Hudson; Louise Robinson; Andrea Stutt; David J Burn; Martin Eccles; David Faini; Patrick F Chinnery
No evidence of substantia nigra telomere shortening in Parkinson's disease.
Neurobiology of aging 2011;32(11):2107.e3-5.
2011: M R Baker; K M Fisher; Philip G Griffiths; R G Whittaker; P Yu-Wai-Man; Patrick F Chinnery
Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.
Neurology 2011;77(13):1309-12.
2011: A Basu; D Birchall; B Esisi; R Horvath; Patrick F Chinnery
Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease.
Neurology 2011;77(12):1205-6.
2011: Rachel Emma Dickinson; Helen Griffin; Sophie Hambleton; Muzlifah Haniffa; Rafiqul Hussain; Bernard Keavney; Jeremy H Lakey; John Loughlin; David McDonald; Naomi McGovern; Sarah Pagan; Thahira Rahman; Louise N Reynard; Mauro Santibanez-Koref; Jonathan Wallis; Xiao-Nong Wang; Michael Wright; Venetia Bigley; Andrew Cant; Patrick F Chinnery; Ignatius Chua; Sharon Cookson; Matthew Collin
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Blood 2011;118(10):2656-8.
2011: Thomas Klopstock; Mika Leinonen; Thomas Meier; Günther Metz; Diana Petraki; Jacinthe Rouleau; Christian Rummey; Marion Schubert; Patrick Yu-Wai-Man; Alaa Atawan; Maura Bailie; Sandip Chattopadhyay; Konstantinos Dimitriadis; Aylin Garip; Philip G Griffiths; Suzette Heck; Marcus Kernt; Patrick F Chinnery
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2011;134(Pt 9):2677-86.
2011: Phillippa J Carling; Lynsey M Cree; Patrick F Chinnery
The implications of mitochondrial DNA copy number regulation during embryogenesis.
Mitochondrion 2011;11(5):686-92.
2011: Brendan A I Payne; D Ashley Price; David Samuels; Mauro Santibanez-Koref; Ian J Wilson; Charlotte A Hateley; Rita Horvath; Patrick F Chinnery
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.
Nature genetics 2011;43(8):806-10.
2011: Gavin Hudson; Patrick Yu-Wai-Man; Philip G Griffiths; Rita Horvath; Valerio Carelli; Massimo Zeviani; Patrick F Chinnery
Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.
Mitochondrion 2011;11(4):620-2.
2011: C Fratter; G S Gorman; M G Hanna; R Horvath; J Poulton; P Raman; A M Schaefer; A Seller; C Smith; T G Staunton; C L Alston; E L Blakely; C Brierley; Patrick F Chinnery; K Craig; B Czermin; J Evans; D M Turnbull; P D Turnpenny; R W Taylor
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Neurology 2011;76(23):2032-4.
2011: David Dick; Rita Horvath; Patrick F Chinnery
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.
Neurology 2011;76(20):1768-70.
2011: P Yu-Wai-Man; M Bailie; A Atawan; Patrick F Chinnery; Philip G Griffiths
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
Eye (London, England) 2011;25(5):596-602.
2011: Kieren T Lythgow; Gavin Hudson; Peter Andras; Patrick F Chinnery
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.
Mitochondrion 2011;11(3):444-9.
2011: Patrick Yu-Wai-Man; Michael I Trenell; Kieren G Hollingsworth; Philip G Griffiths; Patrick F Chinnery
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.
Brain : a journal of neurology 2011;134(Pt 4):e164.
2011: Joanna D Stewart; Susanne Schoeler; Kamil S Sitarz; Rita Horvath; Kerstin Hallmann; Angela Pyle; Patrick Yu-Wai-Man; Robert W Taylor; David Samuels; Wolfram S Kunz; Patrick F Chinnery
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
Biochimica et biophysica acta 2011;1812(3):321-5.
2011: Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Progress in retinal and eye research 2011;30(2):81-114.
2011: Mark O Cunningham; Patrick F Chinnery
Mitochondria and cortical gamma oscillations: food for thought?
Brain : a journal of neurology 2011;134(Pt 2):330-2.
2011: Alisdair McNeill; Patrick F Chinnery
Neurodegeneration with brain iron accumulation.
Handbook of clinical neurology 2011;100():161-72.
2011: Debbie Hicks; A Sarkozy; N Muelas; K Koehler; A Huebner; G Hudson; Patrick F Chinnery; R Barresi; Michelle Eagle; T Polvikoski; G Bailey; J Miller; A Radunovic; P J Hughes; R Roberts; S Krause; M C Walter; Steven H Laval; Volker Straub; Hanns Lochmüller; Kate Bushby
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Brain : a journal of neurology 2011;134(Pt 1):171-82.
2011: John P Kemp; Paul M Smith; Angela Pyle; Vivienne C M Neeve; Helen A L Tuppen; Ulrike Schara; Beril Talim; Haluk Topaloglu; Elke Holinski-Feder; Angela Abicht; Birgit Czermin; Hanns Lochmüller; Robert McFarland; Patrick F Chinnery; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Robert W Taylor; Rita Horvath
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Brain : a journal of neurology 2011;134(Pt 1):183-95.
2011: Ghizlane Elachouri; Sara Vidoni; Claudia Zanna; Alexandre Pattyn; Hassan Boukhaddaoui; Karen Gaget; Patrick Yu-Wai-Man; Giuseppe Gasparre; Emmanuelle Sarzi; Cécile Delettre; Aurélien Olichon; Dominique Loiseau; Pascal Reynier; Patrick F Chinnery; Agnès Rotig; Valerio Carelli; Christian P Hamel; Michela Rugolo; Guy Lenaers
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Genome research 2011;21(1):12-20.
2011: Nimantha de Alwis; Guruprasad Aithal; Elizabetta Bugianesi; Julian Leathart; Gavin Hudson; Angela Pyle; Catherine Mowbray; Elsbeth Henderson; Alistair D Burt; Patrick F Chinnery; Christopher P Day
Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease.
Mitochondrion 2011;11(1):234-5.
2010: Joanna D Stewart; Rita Horvath; Enrico Baruffini; Iliana Ferrero; Stefanie Bulst; Paul B Watkins; Robert J Fontana; Christopher P Day; Patrick F Chinnery
Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.
Hepatology (Baltimore, Md.) 2010;52(5):1791-6.
2010: William G Ondo; Octavian R Adam; Joseph Jankovic; Patrick F Chinnery
Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States.
Movement disorders : official journal of the Movement Disorder Society 2010;25(14):2470-2.
2010: Adam Hassani; Rita Horvath; Patrick F Chinnery
Mitochondrial myopathies: developments in treatment.
Current opinion in neurology 2010;23(5):459-65.
2010: A E Ritchie; Philip G Griffiths; Patrick F Chinnery; A W Davidson
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study.
The British journal of ophthalmology 2010;94(9):1165-8.
2010: Maggie C Walter; Birgit Czermin; Solvig Muller-Ziermann; Stefanie Bulst; Joanna D Stewart; Gavin Hudson; Peter Schneiderat; Angela Abicht; Elke Holinski-Feder; Hanns Lochmüller; Patrick F Chinnery; Thomas Klopstock; Rita Horvath
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
Journal of neurology 2010;257(9):1517-23.
2010: Patrick Yu-Wai-Man; Kamil S Sitarz; David Samuels; Philip G Griffiths; Amy K Reeve; Laurence A Bindoff; Rita Horvath; Patrick F Chinnery
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
Human molecular genetics 2010;19(15):3043-52.
2010: Patrick Yu-Wai-Man; Philip G Griffiths; Ailbhe Burke; Peter W Sellar; Michael P Clarke; Lawrence Gnanaraj; Desiree Ah-Kine; Gavin Hudson; Birgit Czermin; Robert W Taylor; Rita Horvath; Patrick F Chinnery
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Ophthalmology 2010;117(8):1538-46, 1546.e1.
2010: Gavin Hudson; Andrea Stutt; Martin Eccles; Louise Robinson; Liesl M Allcock; Keith A Wesnes; Patrick F Chinnery; David J Burn
Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease.
Neuroscience letters 2010;479(2):123-5.
2010: Patrick F Chinnery
The age of single-gene neurological disorders is not dead.
Brain : a journal of neurology 2010;133(Pt 7):1865-8.
2010: Manon Grube; Freya E Cooper; Patrick F Chinnery; Timothy D Griffiths
Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(25):11597-601.
2010: John D Isaacs; Patrick F Chinnery
Translating cutting edge science into novel and effective therapies.
Current opinion in pharmacology 2010;10(3):300-1.
2010: David Samuels; Passorn Wonnapinij; Lynsey M Cree; Patrick F Chinnery
Reassessing evidence for a postnatal mitochondrial genetic bottleneck.
Nature genetics 2010;42(6):471-2; author reply 472-3.
2010: Angela Pyle; David J Burn; Charlotte Gordon; Catherine Swan; Patrick F Chinnery; Simon V Baudouin
Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.
Intensive care medicine 2010;36(6):956-62.
2010: Lyndsey Craven; Helen A Tuppen; Gareth D Greggains; Stephen J Harbottle; Julie L Murphy; Lynsey M Cree; Alison P Murdoch; Patrick F Chinnery; Robert W Taylor; Robert N Lightowlers; Mary Herbert; Douglass M Turnbull
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.
Nature 2010;465(7294):82-5.
2010: Patrick F Chinnery; Hannah R Elliott; Anila Syed; Peter M Rothwell
Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study.
Lancet neurology 2010;9(5):498-503.
2010: Passorn Wonnapinij; Patrick F Chinnery; David Samuels
Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.
American journal of human genetics 2010;86(4):540-50.
2010: Patrick F Chinnery
Defining neurogenetic phenotypes (or how to compare needles in haystacks).
Brain : a journal of neurology 2010;133(Pt 3):649-51.
2010: Gavin Hudson; Patrick Yu-Wai-Man; Phillip G Griffiths; Leonardo Caporali; Solange S Salomao; Adriana Berezovsky; Valerio Carelli; Massimo Zeviani; Patrick F Chinnery
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.
Molecular vision 2010;16():2760-4.
2010: Freya E Cooper; Manon Grube; Kelly J Elsegood; John L Welch; Thomas P Kelly; Patrick F Chinnery; Timothy D Griffiths
The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6.
Behavioural neurology 2010;23(1-2):3-15.
2009: Marcel Alavi; Nico Fuhrmann; Huu-Phuc Nguyen; Patrick Yu-Wai-Man; Peter Heiduschka; Patrick F Chinnery; Bernd Wissinger
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.
Experimental neurology 2009;220(2):404-9.
2009: Lynsey M Cree; David Samuels; Patrick F Chinnery
The inheritance of pathogenic mitochondrial DNA mutations.
Biochimica et biophysica acta 2009;1792(12):1097-102.
2009: David Samuels; David J Burn; Patrick F Chinnery
Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon?
Trends in genetics : TIG 2009;25(11):486-8.
2009: Fiona L M Norwood; Chris Harling; Patrick F Chinnery; Michelle Eagle; Kate Bushby; Volker Straub
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.
2009: Rita Horvath; John P Kemp; Helen A L Tuppen; Gavin Hudson; Anders Oldfors; Suely K N Marie; Ali-Reza Moslemi; Serenella Servidei; Elisabeth Holme; Sara Shanske; Gittan Kollberg; Parul Jayakar; Angela Pyle; Harold M Marks; Elke Holinski-Feder; Mena Scavina; Maggie C Walter; Jorida Coku; Andrea Günther-Scholz; Paul M Smith; Robert McFarland; Zofia M A Chrzanowska-Lightowlers; Robert N Lightowlers; Michio Hirano; Hanns Lochmüller; Robert W Taylor; Patrick F Chinnery; Mar Tulinius; Salvatore DiMauro
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain : a journal of neurology 2009;132(Pt 11):3165-74.
2009: A Pyle; I M Ibbett; C Gordon; Sharon M Keers; M Walker; Patrick F Chinnery; S V Baudouin
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis.
Journal of medical genetics 2009;46(11):773-5.
2009: Patrick Yu-Wai-Man; Vanessa J Davies; Malgorzata J Piechota; Lynsey M Cree; Marcela Votruba; Patrick F Chinnery
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.
2009: Nimantha De Alwis; Gavin Hudson; Alastair D Burt; Christopher P Day; Patrick F Chinnery
Human liver stem cells originate from the canals of Hering.
Hepatology (Baltimore, Md.) 2009;50(3):992-3.
2009: Matthew Anthony Kirkman; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; I F M de Coo; Thomas Klopstock; Philip G Griffiths; Gavin Hudson; Patrick F Chinnery; Patrick Yu-Wai-Man
Quality of life in patients with leber hereditary optic neuropathy.
Investigative ophthalmology & visual science 2009;50(7):3112-5.
2009: Tariq G Fellous; Stuart McDonald; Julia Burkert; Adam Humphries; Shahriar Islam; Nemantha M W De-Alwis; Lydia Gutierrez-Gonzalez; Paul J Tadrous; George Elia; Hemant M Kocher; Satyajit Bhattacharya; Lisa Mears; Mona El-Bahrawy; Douglas M Turnbull; Robert W Taylor; Laura C Greaves; Patrick F Chinnery; Christopher P Day; Nicholas A Wright; Malcolm R Alison
A methodological approach to tracing cell lineage in human epithelial tissues.
Stem cells (Dayton, Ohio) 2009;27(6):1410-20.
2009: Cyril Goizet; Amir Boukhris; Alexandra Durr; christian beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant-Maréchal; Bertrand Fontaine; João Guimarães; Bertrand Isidor; Olivier Chazouillères; Dominique Wendum; Djamel Grid; Françoise Chevy; Patrick F Chinnery; Paula Coutinho; Jean-Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain : a journal of neurology 2009;132(Pt 6):1589-600.
2009: David Devos; P Jissendi Tchofo; Isabelle Vuillaume; Alain Destée; Stephanie Batey; John Burn; Patrick F Chinnery
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
Brain : a journal of neurology 2009;132(Pt 6):e109.
2009: Gavin Hudson; Watcharee Tiangyou; Andrea Stutt; Martin P Eccles; Louise Robinson; David J Burn; Patrick F Chinnery
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.
2009: Tariq G Fellous; Shahriar Islam; Paul J Tadrous; George Elia; Hemant M Kocher; Satyajit Bhattacharya; Lisa Mears; Douglas M Turnbull; Robert W Taylor; Laura C Greaves; Patrick F Chinnery; Geoffery Taylor; Stuart A C McDonald; Nicholas A Wright; Stuart McDonald
Locating the stem cell niche and tracing hepatocyte lineages in human liver.
Hepatology (Baltimore, Md.) 2009;49(5):1655-63.
2009: Stefanie Bulst; Angela Abicht; Elke Holinski-Feder; Solvig Müller-Ziermann; Udo Koehler; Christian Thirion; Maggie C Walter; Joanna D Stewart; Patrick F Chinnery; Hanns Lochmüller; Rita Horvath
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.
2009: Alexey Shatunov; Montse Olivé; Zagaa Odgerel; Christine Stadelmann-Nessler; Kerstin Irlbacher; Frank van Landeghem; Munkhuu Bayarsaikhan; Hee-Suk Lee; Bertrand Goudeau; Patrick F Chinnery; Volker Straub; David Hilton-Jones; Maxwell S Damian; Anna Kaminska; Patrick Vicart; Kate Bushby; Marinos C Dalakas; Nyamkhishig Sambuughin; Isidro Ferrer; Hans H Goebel; Lev G Goldfarb
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.
2009: J D Stewart; S Tennant; H Powell; A Pyle; Emma L Blakely; Langping He; Gavin Hudson; M Roberts; D du Plessis; D Gow; L D Mewasingh; Michael G Hanna; S Omer; A A Morris; R Roxburgh; J H Livingston; R McFarland; Douglass M Turnbull; Patrick F Chinnery; Robert W Taylor
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Journal of medical genetics 2009;46(3):209-14.
2009: S Wolny; R McFarland; Patrick F Chinnery; Tim Cheetham
Abnormal growth in mitochondrial disease.
Acta paediatrica (Oslo, Norway : 1992) 2009;98(3):553-4.
2009: P Yu-Wai-Man; P G Griffiths; Gavin Hudson; Patrick F Chinnery
Inherited mitochondrial optic neuropathies.
Journal of medical genetics 2009;46(3):145-58.
2009: R G Whittaker; J K Blackwood; C L Alston; Emma L Blakely; J L Elson; R McFarland; Patrick F Chinnery; Douglass M Turnbull; Robert W Taylor
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
Neurology 2009;72(6):568-9.
2009: Alisdair McNeill; Daniel Birchall; Volker Straub; Lev Goldfarb; Peter Reilich; Maggie C Walter; Nicolai Schramm; Hanns Lochmüller; Patrick F Chinnery
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
European neurology 2009;62(3):161-6.
2009: Gavin Hudson; Patrick Yu-Wai-Man; Massimo Zeviani; Patrick F Chinnery
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.
2009: Patrick Yu-Wai-Man; Grainne Gorman; David E Bateman; R John Leigh; Patrick F Chinnery
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.
Journal of neurology 2009;256(1):78-82.
2008: Matthew Anthony Kirkman; Patrick Yu-Wai-Man; Patrick F Chinnery
The clinical spectrum of mitochondrial genetic disorders.
Clinical medicine (London, England) 2008;8(6):601-6.
2008: J D Stewart; Gavin Hudson; P Yu-Wai-Man; E L Blakeley; L He; Rita Horvath; P Maddison; A Wright; P G Griffiths; Douglass M Turnbull; Robert W Taylor; Patrick F Chinnery
OPA1 in multiple mitochondrial DNA deletion disorders.
Neurology 2008;71(22):1829-31.
2008: Passorn Wonnapinij; Patrick F Chinnery; David Samuels
The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.
American journal of human genetics 2008;83(5):582-93.
2008: Rita Horvath; Grainne Gorman; Patrick F Chinnery
How can we treat mitochondrial encephalomyopathies? Approaches to therapy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):558-68.
2008: G Gorman; S Fairgrieve; D Birchall; Patrick F Chinnery
Fragile X premutation presenting as essential tremor.
Journal of neurology, neurosurgery, and psychiatry 2008;79(10):1195-6.
2008: Lindsey Kent; Louise Gallagher; Hannah R Elliott; Catherine Mowbray; Patrick F Chinnery
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.
2008: Gabor Zsurka; Miriam Baron; Joanna D Stewart; Cornelia Kornblum; Monika Bös; Robert Sassen; Robert W Taylor; Christian E Elger; Patrick F Chinnery; Wolfram S Kunz
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
Journal of neuropathology and experimental neurology 2008;67(9):857-66.
2008: Patrick Yu-Wai-Man; Clive Elliott; Philip G Griffiths; Ian J Johnson; Patrick F Chinnery
Investigation of auditory dysfunction in Leber hereditary optic neuropathy.
Acta ophthalmologica 2008;86(6):630-3.
2008: Hannah R Elliott; David Samuels; James A Eden; Caroline L Relton; Patrick F Chinnery
Pathogenic mitochondrial DNA mutations are common in the general population.
American journal of human genetics 2008;83(2):254-60.
2008: Lynsey M Cree; S K Patel; A Pyle; Stephen Lynn; Douglass M Turnbull; Patrick F Chinnery; Mark Walker
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets.
Diabetologia 2008;51(8):1440-3.
2008: Gavin Hudson; Patrick Yu-Wai-Man; Patrick F Chinnery
Leber hereditary optic neuropathy.
Expert opinion on medical diagnostics 2008;2(7):789-99.
2008: Kate Craig; Yoshihisa Takiyama; bing-wen soong; Laura B Jardim; Maria Luiza Saraiva Pereira; Kieren Lythgow; Hiroyuki Morino; Hirofumi Maruyama; Hideshi Kawakami; Patrick F Chinnery
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.
2008: Patrick Yu-Wai-Man; David E Bateman; Gavin Hudson; Philip G Griffiths; Patrick F Chinnery
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.
2008: A McNeill; D Birchall; Susan J Hayflick; A Gregory; J F Schenk; E A Zimmerman; H Shang; H Miyajima; Patrick F Chinnery
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.
Neurology 2008;70(18):1614-9.
2008: Gavin Hudson; Catherine Mowbray; Joanna Elson; Anu Jacob; Michael Boggild; Antonio Torroni; Patrick F Chinnery
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
Brain : a journal of neurology 2008;131(Pt 4):e93.
2008: A Nemes; I F M de Coo; Liesbeth Spruijt; H J M Smeets; Patrick F Chinnery; Osama Soliman; M L Geleijnse; F J Ten Cate
Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?
European journal of ophthalmology 2008;18(2):309-12.
2008: Kim J Krishnan; Amy K Reeve; David Samuels; Patrick F Chinnery; John K Blackwood; Robert W Taylor; Sjoerd Wanrooij; Johannes N Spelbrink; Robert N Lightowlers; Doug M Turnbull
What causes mitochondrial DNA deletions in human cells?
Nature genetics 2008;40(3):275-9.
2008: Patrick F Chinnery; Massimo Zeviani
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.
2008: Harsha Karur Rajasimha; Patrick F Chinnery; David Samuels
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.
2008: Lynsey M Cree; David Samuels; Susana Chuva de Sousa Lopes; Harsha Karur Rajasimha; Passorn Wonnapinij; Jeffrey R Mann; Hans-Henrik M Dahl; Patrick F Chinnery
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
Nature genetics 2008;40(2):249-54.
2008: Robert McFarland; Gavin Hudson; Robert W Taylor; S H Green; S Hodges; P J McKiernan; Patrick F Chinnery; V Ramesh
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).
Archives of disease in childhood 2008;93(2):151-3.
2008: Gavin Hudson; Patrizia Amati-Bonneau; Emma L Blakely; Joanna D Stewart; Langping He; Andrew M Schaefer; Philip G Griffiths; Kati Ahlqvist; Anu Suomalainen; Pascal Reynier; Robert McFarland; Douglass M Turnbull; Patrick F Chinnery; Robert W Taylor
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.
2008: Timothy Harrower; Joanna D Stewart; Gavin Hudson; Henry Houlden; Graham Warner; Dominic G O'Donovan; Leslie J Findlay; Robert W Taylor; Rajith de Silva; Patrick F Chinnery
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
Archives of neurology 2008;65(1):133-6.
2008: Andrew M Schaefer; Robert McFarland; Emma L Blakely; Langping He; Roger G Whittaker; Robert W Taylor; Patrick F Chinnery; Douglass M Turnbull
Prevalence of mitochondrial DNA disease in adults.
Annals of neurology 2008;63(1):35-9.
2007: Kate Craig; H R Elliott; Sharon M Keers; C Lambert; A Pyle; T D Graves; C Woodward; Mary G Sweeney; M B Davis; M G Hanna; Patrick F Chinnery
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
Journal of medical genetics 2007;44(12):797-9.
2007: Friedrich Asmus; Anita Devlin; Marita Munz; Alexander Zimprich; Thomas Gasser; Patrick F Chinnery
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.
2007: Robert McFarland; Patrick F Chinnery; Emma L Blakely; Andrew M Schaefer; Andrew A M Morris; S M Foster; H A L Tuppen; V Ramesh; P J Dorman; Douglass M Turnbull; Robert W Taylor
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
Neurology 2007;69(9):911-6.
2007: An Goris; Caroline H Williams-Gray; Graeme R Clark; Thomas Foltynie; Simon J G Lewis; Joanne Brown; Maria Ban; Maria Grazia Spillantini; Alastair Compston; David J Burn; Patrick F Chinnery; Roger A Barker; Stephen Sawcer
Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease.
Annals of neurology 2007;62(2):145-53.
2007: Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; P Y W Man; René F M de Coo; Rita Horvath; Massimo Zeviani; H J M Smeets; Antonio Torroni; Patrick F Chinnery
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.
2007: Evelyn Jaros; D J Mahad; Gavin Hudson; Daniel Birchall; S J Sawcer; Philip G Griffiths; J Sunter; D A S Compston; Robert H Perry; Patrick F Chinnery
Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy.
Neurology 2007;69(2):214-6.
2007: Steve E Durham; David Samuels; Lynsey M Cree; Patrick F Chinnery
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.
2007: christian beetz; Stephan Zuchner; Allison Ashley-Koch; Michaela Auer-Grumbach; Paula Byrne; Patrick F Chinnery; Michael Hutchinson; Christopher J McDermott; Inge A Meijer; Anders O H Nygren; Margaret Pericak-Vance; Angela Pyle; Guy Rouleau; Jörg Schickel; Pamela J Shaw; Thomas Deufel
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.
2007: Patrick F Chinnery; Catherine Mowbray; S K Patel; Joanna Elson; M Sampson; G A Hitman; M I McCarthy; Andrew T Hattersley; M Walker
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls.
Journal of medical genetics 2007;44(6):e80.
2007: Marcus Deschauer; A Morgenroth; P R Joshi; D Gläser; Patrick F Chinnery; J Aasly; H Schreiber; M Knape; Stephan Zierz; Matthias Vorgerd
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Journal of neurology 2007;254(6):797-802.
2007: Kate Craig; Gianfrancesco Ferrari; Watcharee Tiangyou; Gavin Hudson; Cinzia Gellera; Massimo Zeviani; Patrick F Chinnery
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.
2007: Gavin Hudson; Andrew M Schaefer; Robert W Taylor; Watcharee Tiangyou; Andrew Gibson; Graham Venables; Philip Griffiths; David J Burn; Douglass M Turnbull; Patrick F Chinnery
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.
2007: Patrick F Chinnery
Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
Brain : a journal of neurology 2007;130(Pt 3):606-9.
2007: Lorraine Jacobs; Mike Gerards; Patrick F Chinnery; John C M Dumoulin; I F M de Coo; Joep P M Geraedts; H J M Smeets
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.
Molecular human reproduction 2007;13(3):149-54.
2007: Joanna Elson; Kari Majamaa; Neil Howell; Patrick F Chinnery
Associating mitochondrial DNA variation with complex traits.
American journal of human genetics 2007;80(2):378-82; author reply 382-3.
2007: Gavin Hudson; Valerio Carelli; Rita Horvath; Massimo Zeviani; Hubert J Smeets; Patrick F Chinnery
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.
Molecular vision 2007;13():2339-43.
2007: Patrick F Chinnery; Douglas E Crompton; Daniel Birchall; Margaret J Jackson; Alan Coulthard; Anne Lombès; Niall Quinn; Adrian Wills; Nicholas A Fletcher; John P Mottershead; Paul Cooper; Mark Kellett; David Bates; John Burn
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Brain : a journal of neurology 2007;130(Pt 1):110-9.
2007: Patrick F Chinnery; Catherine Mowbray; Hannah Elliot; Joanna Elson; Hannah Nixon; Judith Hartley; Pamela J Shaw
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis.
Neurogenetics 2007;8(1):65-7.
2007: Angela Pyle; Robert W Taylor; Steve E Durham; Marcus Deschauer; Andrew M Schaefer; David Samuels; Patrick F Chinnery
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.
Journal of medical genetics 2007;44(1):69-74.
2006: Watcharee Tiangyou; Gavin Hudson; D Ghezzi; G Ferrari; Massimo Zeviani; David J Burn; Patrick F Chinnery
POLG1 in idiopathic Parkinson disease.
Neurology 2006;67(9):1698-700.
2006: Patrick F Chinnery; John Vissing
Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?
Neurology 2006;67(8):1330-2.
2006: Gavin Hudson; Patrick F Chinnery
Mitochondrial DNA polymerase-gamma and human disease.
Human molecular genetics 2006;15 Spec No 2():R244-52.
2006: John Burn; Patrick F Chinnery
Neuroferritinopathy.
Seminars in pediatric neurology 2006;13(3):176-81.
2006: Steve E Durham; Denise T Brown; Douglass M Turnbull; Patrick F Chinnery
Progressive depletion of mtDNA in mitochondrial myopathy.
Neurology 2006;67(3):502-4.
2006: Lindsey Kent; Claire Lambert; Angela Pyle; Hannah Elliott; Sally Wheelwright; Simon Baron-Cohen; Patrick F Chinnery
The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome.
The Journal of pediatrics 2006;149(2):280-1.
2006: D T Brown; M Herbert; V K Lamb; Patrick F Chinnery; Robert W Taylor; Robert N Lightowlers; L Craven; Lynsey M Cree; Julie L Gardner; Douglass M Turnbull
Transmission of mitochondrial DNA disorders: possibilities for the future.
Lancet 2006;368(9529):87-9.
2006: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; René Santer; Marketa Tesarova; Jirí Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
2006: Andrew M Schaefer; C Phoenix; Joanna Elson; Robert McFarland; Patrick F Chinnery; Douglass M Turnbull
Mitochondrial disease in adults: a scale to monitor progression and treatment.
Neurology 2006;66(12):1932-4.
2006: Matthew J Longley; Susanna Clark; Cynthia Yu Wai Man; Gavin Hudson; Steve E Durham; Robert W Taylor; Simon Nightingale; Douglass M Turnbull; William C Copeland; Patrick F Chinnery
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
American journal of human genetics 2006;78(6):1026-34.
2006: Steve E Durham; David Samuels; Patrick F Chinnery
Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?
Neuromuscular disorders : NMD 2006;16(6):381-6.
2006: Gavin Hudson; Marcus Deschauer; Robert W Taylor; Michael G Hanna; Doreen Fialho; Andrew M Schaefer; L-P He; Emma L Blakely; Douglass M Turnbull; Patrick F Chinnery
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Neurology 2006;66(9):1439-41.
2006: CY Yu Wai Man; T Smith; Patrick F Chinnery; D M Turnbull; Philip G Griffiths
Assessment of visual function in chronic progressive external ophthalmoplegia.
Eye (London, England) 2006;20(5):564-8.
2006: R Andrews; Thomas Ressiniotis; D M Turnbull; Michael Birch; Sharon M Keers; Patrick F Chinnery; Philip G Griffiths
The role of mitochondrial haplogroups in primary open angle glaucoma.
The British journal of ophthalmology 2006;90(4):488-90.
2006: David Samuels; Andrew D Carothers; Robin Horton; Patrick F Chinnery
The power to detect disease associations with mitochondrial DNA haplogroups.
American journal of human genetics 2006;78(4):713-20.
2006: David J Burn; Watcharee Tiangyou; Liesl M Allcock; Jill Davison; Patrick F Chinnery
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.
2006: Craig S Wilding; Kevin Cadwell; E Janet Tawn; Caroline L Relton; Geoffrey A Taylor; Patrick F Chinnery; Douglass M Turnbull
Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation.
Radiation research 2006;165(2):202-7.
2006: Patrick F Chinnery; K Majamaa; D Turnbull; David R Thorburn
Treatment for mitochondrial disorders.
Cochrane database of systematic reviews (Online) 2006;(1):CD004426.
2005: Simon V Baudouin; David Saunders; Watcharee Tiangyou; Joanna Elson; Jayne Poynter; Angela Pyle; Sharon M Keers; Douglass M Turnbull; Neil Howell; Patrick F Chinnery
Mitochondrial DNA and survival after sepsis: a prospective study.
Lancet 2005;366(9503):2118-21.
2005: Kate Craig; Sharon M Keers; Timothy J Walls; Ann Curtis; Patrick F Chinnery
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.
Journal of the neurological sciences 2005;239(1):105-9.
2005: Gavin Hudson; Sharon M Keers; Patrick Yu Wai Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; H J M Smeets; Patrick F Chinnery
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.
2005: Patrick F Chinnery; H R Elliott; S Patel; C Lambert; Sharon M Keers; Steve E Durham; MI McCarthy; G A Hitman; Andrew T Hattersley; M Walker
Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes.
Lancet 2005;366(9497):1650-1.
2005: Martin J Barron; Patrick F Chinnery; Denise Howel; Emma L Blakely; Andrew M Schaefer; Robert W Taylor; Douglass M Turnbull
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: Neil Howell; Joanna Elson; Patrick F Chinnery; Douglass M Turnbull
mtDNA mutations and common neurodegenerative disorders.
Trends in genetics : TIG 2005;21(11):583-6.
2005: Nicholas P Davies; Paola Imbrici; Doreen Fialho; Colin Herd; L G Bilsland; A Weber; R Mueller; D Hilton-Jones; J Ealing; B R Boothman; Paola Giunti; L M Parsons; M Thomas; A Y Manzur; Karin Jurkat-Rott; Frank Lehmann-Horn; Patrick F Chinnery; M Rose; Dimitri M Kullmann; Michael G Hanna
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Neurology 2005;65(7):1083-9.
2005: Daniel Birchall; Maja von der Hagen; David Bates; K M D Bushby; Patrick F Chinnery
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: Steve E Durham; E Bonilla; David Samuels; Salvatore DiMauro; Patrick F Chinnery
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
Neurology 2005;65(3):453-5.
2005: Patrick F Chinnery; Salvatore DiMauro
Mitochondrial hepatopathies.
Journal of hepatology 2005;43(2):207-9.
2005: Marcus Deschauer; Gavin Hudson; Tobias Müller; Robert W Taylor; Patrick F Chinnery; Stephan Zierz
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2005;15(4):311-5.
2005: Angela Pyle; Thomas Foltynie; Watcharee Tiangyou; Claire Lambert; Sharon M Keers; Liesl M Allcock; Jill Davison; Simon J Lewis; Robert H Perry; Roger A Barker; David J Burn; Patrick F Chinnery
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.
Annals of neurology 2005;57(4):564-7.
2005: Patrick F Chinnery; Philip G Griffiths
Optic mitochondriopathies.
Neurology 2005;64(6):940-1.
2005: Gavin Hudson; Marcus Deschauer; K Busse; Stephan Zierz; Patrick F Chinnery
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
Neurology 2005;64(2):371-3.
2005: CY Yu Wai Man; Patrick F Chinnery; Philip G Griffiths
Optic neuropathies--importance of spatial distribution of mitochondria as well as function.
Medical hypotheses 2005;65(6):1038-42.
2005: Thomas Ressiniotis; Philip G Griffiths; Sharon M Keers; Patrick F Chinnery; Michael Birch
A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians.
BMC ophthalmology 2005;5():5.
2005: CY Yu Wai Man; Patrick F Chinnery; Philip G Griffiths
Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders.
Neuromuscular disorders : NMD 2005;15(1):17-23.
2005: Neil Howell; Iwona Kubacka; Sharon M Keers; Douglass M Turnbull; Patrick F Chinnery
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.
Human genetics 2005;116(1-2):28-32.
2005: Douglas E Crompton; Patrick F Chinnery; David Bates; Timothy J Walls; Margaret J Jackson; Andrew J Curtis; John Burn
Spectrum of movement disorders in neuroferritinopathy.
Movement disorders : official journal of the Movement Disorder Society 2005;20(1):95-9.
2004: Andrew M Schaefer; Robert W Taylor; Douglass M Turnbull; Patrick F Chinnery
The epidemiology of mitochondrial disorders--past, present and future.
Biochimica et biophysica acta 2004;1659(2-3):115-20.
2004: Thomas Ressiniotis; Philip G Griffiths; Michael Birch; Sharon M Keers; Patrick F Chinnery
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: David Samuels; Eric A Schon; Patrick F Chinnery
Two direct repeats cause most human mtDNA deletions.
Trends in genetics : TIG 2004;20(9):393-8.
2004: Martina T McDonnell; Andrew M Schaefer; Emma L Blakely; Robert McFarland; Patrick F Chinnery; Douglass M Turnbull; Robert W Taylor
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: Patrick F Chinnery; Sharon M Keers; M J Holden; V Ramesh; A Dalton
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
Neurology 2004;63(4):710-2.
2004: Patrick F Chinnery; Salvatore DiMauro; Sara Shanske; Eric A Schon; Massimo Zeviani; Caterina Mariotti; Franco Carrara; Anne Lombes; Pascal Laforet; Helène Ogier; Michaela Jaksch; Hanns Lochmüller; Rita Horvath; Marcus Deschauer; David R Thorburn; Laurence A Bindoff; Joanna Poulton; Robert W Taylor; J N S Matthews; Douglass M Turnbull
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Marcus Deschauer; Patrick F Chinnery; Andrew M Schaefer; D M Turnbull; R W Taylor; S Zierz; S Shanske; S DiMauro; K Majamaa; E Wilichowski; D R Thorburn
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: Raffaele Lodi; Bheeshma Rajagopalan; Andrew M Blamire; Jenifer G Crilley; Peter Styles; Patrick F Chinnery
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: Kate Craig; Sharon M Keers; Kate Archibald; Ann Curtis; Patrick F Chinnery
Molecular epidemiology of spinocerebellar ataxia type 6.
Annals of neurology 2004;55(5):752-5.
2004: P Y W Man; Neil Howell; D A Mackey; Søren Nørby; Thomas Rosenberg; Douglass M Turnbull; Patrick F Chinnery
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
Journal of medical genetics 2004;41(4):e41.
2004: Thomas Ressiniotis; Philip G Griffiths; M Birch; Sharon M Keers; Patrick F Chinnery
Primary open angle glaucoma is associated with a specific p53 gene haplotype.
Journal of medical genetics 2004;41(4):296-8.
2004: Robert McFarland; Andrew M Schaefer; Julie L Gardner; Stephen Lynn; Christine M Hayes; Martin J Barron; Mark Walker; Patrick F Chinnery; Robert W Taylor; Douglass M Turnbull
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
Annals of neurology 2004;55(4):478-84.
2004: Patrick F Chinnery; David A Cottrell; Daniel Birchall; Timothy D Griffiths
Limbic encephalitis: Not a picture to forget.
Neurology 2004;62(6):1019.
2004: Thomas Ressiniotis; Philip G Griffiths; Michael Birch; Sharon M Keers; Patrick F Chinnery
The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma.
Archives of ophthalmology 2004;122(2):258-61.
2004: Emma L Blakely; Langping He; Robert W Taylor; Patrick F Chinnery; Robert N Lightowlers; Andrew M Schaefer; Douglass M Turnbull
Mitochondrial DNA deletion in "identical" twin brothers.
Journal of medical genetics 2004;41(2):e19.
2004: Robert McFarland; Robert W Taylor; Patrick F Chinnery; Neil Howell; Douglass M Turnbull
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
Neuromuscular disorders : NMD 2004;14(2):162-6.
2004: Patrick F Chinnery; Niall E F Cartlidge; Stephen Tennant; Daniel Birchall; Su A R Stenhouse
Genetics in reverse.
Lancet 2004;363(9405):290.
2004: Patrick F Chinnery
New approaches to the treatment of mitochondrial disorders.
Reproductive biomedicine online 2004;8(1):16-23.
2003: Mathew L P Howse; Theresa M Wardell; Christopher J Fisher; Peter J B Tilley; Patrick F Chinnery; Laurence A Bindoff
Late-onset mitochondrial disorder with electromyographic evidence of myotonia.
Muscle & nerve 2003;28(6):757-9.
2003: Robert W Taylor; Martin J Barron; Gillian M Borthwick; Amy Gospel; Patrick F Chinnery; David Samuels; Geoffrey A Taylor; Stefan M Plusa; Stephanie J Needham; Laura C Greaves; Thomas B L Kirkwood; Douglass M Turnbull
Mitochondrial DNA mutations in human colonic crypt stem cells.
The Journal of clinical investigation 2003;112(9):1351-60.
2003: Patrick F Chinnery; Laurence A Bindoff
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: David Samuels; Richard J Boys; Daniel A Henderson; Patrick F Chinnery
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: Patrick F Chinnery
Mitochondrial disorders come full circle.
Neurology 2003;61(7):878-80.
2003: Robert W Taylor; Martina T McDonnell; Emma L Blakely; Patrick F Chinnery; Geoffrey A Taylor; Neil Howell; Massimo Zeviani; Egill Briem; Franco Carrara; Douglass M Turnbull
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
2003: Patrick F Chinnery; E A Schon
Mitochondria.
Journal of neurology, neurosurgery, and psychiatry 2003;74(9):1188-99.
2003: Patrick F Chinnery; Denise Howel; Douglass M Turnbull; Margaret A Johnson
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: Erik Richly; Patrick F Chinnery; Dario Leister
Evolutionary diversification of mitochondrial proteomes: implications for human disease.
Trends in genetics : TIG 2003;19(7):356-62.
2003: Robert W Taylor; M S Jobling; Douglass M Turnbull; Patrick F Chinnery
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.
Journal of medical genetics 2003;40(7):e85.
2003: Patrick F Chinnery; Andrew R J Curtis; Constanze Fey; Alan Coulthard; Douglas E Crompton; Ann Curtis; A Lombés; John Burn
Neuroferritinopathy in a French family with late onset dominant dystonia.
Journal of medical genetics 2003;40(5):e69.
2003: Graham J Capps; David Samuels; Patrick F Chinnery
A model of the nuclear control of mitochondrial DNA replication.
Journal of theoretical biology 2003;221(4):565-83.
2003: Theresa M Wardell; Elaine Ferguson; Patrick F Chinnery; Gillian M Borthwick; Robert W Taylor; Graham Jackson; Alan W Craft; Robert N Lightowlers; Neil Howell; Douglass M Turnbull
Changes in the human mitochondrial genome after treatment of malignant disease.
Mutation research 2003;525(1-2):19-27.
2003: P Y W Man; C M Morris; Massimo Zeviani; Franco Carrara; Douglass M Turnbull; Patrick F Chinnery
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.
Journal of medical genetics 2003;40(4):e41.
2003: Neil Howell; Christy Bogolin Smejkal; David A Mackey; Patrick F Chinnery; Douglass M Turnbull; Corinna Herrnstadt
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: Patrick F Chinnery
Searching for nuclear-mitochondrial genes.
Trends in genetics : TIG 2003;19(2):60-2.
2003: P Y W Man; Philip G Griffiths; Denise T Brown; Neil Howell; Douglass M Turnbull; Patrick F Chinnery
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
American journal of human genetics 2003;72(2):333-9.
2002: Patrick F Chinnery
Inheritance of mitochondrial disorders.
Mitochondrion 2002;2(1-2):149-55.
2002: Douglas E Crompton; Patrick F Chinnery; Constanze Fey; Andrew R J Curtis; Christopher M Morris; Jo Kierstan; Alistair Burt; Fergus Young; Alan Coulthard; Ann Curtis; Paul Geoffrey Ince; David Bates; Margaret J Jackson; John Burn
Neuroferritinopathy: a window on the role of iron in neurodegeneration.
Blood cells, molecules & diseases 2002;29(3):522-31.
2002: Joanna Elson; David Samuels; Margaret A Johnson; Douglass M Turnbull; Patrick F Chinnery
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: Patrick F Chinnery; David Samuels; Joanna Elson; Douglass M Turnbull
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
Lancet 2002;360(9342):1323-5.
2002: Patrick F Chinnery; Timothy J Walls; Michael G Hanna; David Bates; Peter R W Fawcett
Normokalemic periodic paralysis revisited: does it exist?
Annals of neurology 2002;52(2):251-2.
2002: John Spiropoulos; Douglass M Turnbull; Patrick F Chinnery
Can mitochondrial DNA mutations cause sperm dysfunction?
Molecular human reproduction 2002;8(8):719-21.
2002: Langping He; Patrick F Chinnery; Steve E Durham; Emma L Blakely; Theresa M Wardell; Gillian M Borthwick; Robert W Taylor; Douglass M Turnbull
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.
Nucleic acids research 2002;30(14):e68.
2002: Alan T W Choo-Kang; Stephen Lynn; Geoffrey A Taylor; Mark E Daly; Sarbpreet S Sihota; Theresa M Wardell; Patrick F Chinnery; Douglass M Turnbull; Mark Walker
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
Diabetes 2002;51(7):2317-20.
2002: P Y W Man; Denise T Brown; M S Wehnert; Massimo Zeviani; Franco Carrara; Douglass M Turnbull; Patrick F Chinnery
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Neurology 2002;58(12):1861-2.
2002: Patrick F Chinnery; D T Brown; K Archibald; Ann Curtis; D M Turnbull
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations.
Journal of medical genetics 2002;39(5):E22.
2002: Corinna Herrnstadt; Gwen Preston; Richard Andrews; Patrick F Chinnery; Robert N Lightowlers; Douglass M Turnbull; Iwona Kubacka; Neil Howell
A high frequency of mtDNA polymorphisms in HeLa cell sublines.
Mutation research 2002;501(1-2):19-28.
2002: Patrick F Chinnery
Modulating heteroplasmy.
Trends in genetics : TIG 2002;18(4):173-6.
2002: P Y W Man; Douglass M Turnbull; Patrick F Chinnery
Leber hereditary optic neuropathy.
Journal of medical genetics 2002;39(3):162-9.
2002: Patrick F Chinnery; Paul J Reading; Emma L McCarthy; Ann Curtis; David J Burn
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: Andrew R J Curtis; Constanze Fey; Christopher M Morris; L A Bindoff; Paul Geoffrey Ince; Patrick F Chinnery; Alan Coulthard; Margaret J Jackson; Andrew P Jackson; Duncan P McHale; D Hay; WA Barker; Alexander F Markham; David Bates; Ann Curtis; John Burn
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Nature genetics 2001;28(4):350-4.
2001: Patrick F Chinnery; Doris J Taylor; David Manners; Peter Styles; Raffaele Lodi
No correlation between muscle A3243G mutation load and mitochondrial function in vivo.
Neurology 2001;56(8):1101-4.
2001: Patrick F Chinnery; Margaret A Johnson; Timothy J Walls; G J Gibson; Peter R W Fawcett; S Jamieson; J J Fulthorpe; M Cullen; P Hudgson; K M D Bushby
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: Joanna Elson; David Samuels; Douglass M Turnbull; Patrick F Chinnery
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.
American journal of human genetics 2001;68(3):802-6.
2001: Patrick F Chinnery; G A Taylor; Neil Howell; Denise T Brown; T J Parsons; Douglass M Turnbull
Point mutations of the mtDNA control region in normal and neurodegenerative human brains.
American journal of human genetics 2001;68(2):529-32.
2001: Denise T Brown; David Samuels; E M Michael; Douglass M Turnbull; Patrick F Chinnery
Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
American journal of human genetics 2001;68(2):533-6.
2001: Patrick F Chinnery; R M Andrews; Douglass M Turnbull; Neil Howell
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: Patrick F Chinnery; Douglass M Turnbull
Epidemiology and treatment of mitochondrial disorders.
American journal of medical genetics 2001;106(1):94-101.
2001: Patrick F Chinnery; Denise T Brown; R M Andrews; R Singh-Kler; P Riordan-Eva; J Lindley; D A Applegarth; Douglass M Turnbull; Neil Howell
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: Patrick F Chinnery; S Jones; Lisbet Sviland; Richard M Andrews; T J Parsons; Douglass M Turnbull; Laurence A Bindoff
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
Gut 2001;48(1):121-4.
2001: Joanna Elson; Richard M Andrews; Patrick F Chinnery; Robert N Lightowlers; Douglass M Turnbull; Neil Howell
Analysis of European mtDNAs for recombination.
American journal of human genetics 2001;68(1):145-153.
2000: Patrick F Chinnery; Douglass M Turnbull
Mitochondrial DNA mutations in the pathogenesis of human disease.
Molecular medicine today 2000;6(11):425-32.
2000: Patrick F Chinnery; David R Thorburn; David Samuels; Sarah White; H M Dahl; Douglass M Turnbull; Robert N Lightowlers; Neil Howell
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
Trends in genetics : TIG 2000;16(11):500-5.
2000: Patrick F Chinnery; Margaret A Johnson; Theresa M Wardell; R Singh-Kler; C Hayes; Denise T Brown; Robert W Taylor; Laurence A Bindoff; Douglass M Turnbull
The epidemiology of pathogenic mitochondrial DNA mutations.
Annals of neurology 2000;48(2):188-93.
2000: Patrick F Chinnery; G A Taylor; Neil Howell; R M Andrews; Christopher M Morris; Robert W Taylor; Ian G McKeith; Robert H Perry; James A Edwardson; Douglass M Turnbull
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
Neurology 2000;55(2):302-4.
2000: Robert W Taylor; Patrick F Chinnery; Douglass M Turnbull; Robert N Lightowlers
In-vitro genetic modification of mitochondrial function.
Human reproduction (Oxford, England) 2000;15 Suppl 2():79-85.
2000: DA Cottrell; Paul Geoffrey Ince; Emma L Blakely; Margaret A Johnson; Patrick F Chinnery; M Hanna; Douglass M Turnbull
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder.
Journal of neuropathology and experimental neurology 2000;59(7):621-7.
2000: Patrick F Chinnery; Doris J Taylor; Denise T Brown; David Manners; Peter Styles; Raffaele Lodi
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo.
Annals of neurology 2000;47(3):381-4.
2000: Patrick F Chinnery; C Elliott; G R Green; Adrian Rees; Alan Coulthard; Douglass M Turnbull; Timothy D Griffiths
The spectrum of hearing loss due to mitochondrial DNA defects.
Brain : a journal of neurology 2000;123 ( Pt 1)():82-92.
1999: Richard M Andrews; Philip G Griffiths; Patrick F Chinnery; Douglass M Turnbull
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: Patrick F Chinnery; Robert W Taylor; K Diekert; Roland Lill; Douglass M Turnbull; Robert N Lightowlers
Peptide nucleic acid delivery to human mitochondria.
Gene therapy 1999;6(12):1919-28.
1999: R M Andrews; Iwona Kubacka; Patrick F Chinnery; R N Lightowlers; Douglass M Turnbull; N Howell
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
Nature genetics 1999;23(2):147.
1999: Patrick F Chinnery; P J Zwijnenburg; Mark Walker; Neil Howell; R W Taylor; R N Lightowlers; Laurence A Bindoff; Douglass M Turnbull
Nonrandom tissue distribution of mutant mtDNA.
American journal of medical genetics 1999;85(5):498-501.
1999: Richard M Andrews; B J McNeela; P Reading; Philip G Griffiths; Patrick F Chinnery; Douglass M Turnbull
Mitochondrial DNA disease masquerading as age-related mascular degeneration.
Eye (London, England) 1999;13 ( Pt 4)():595-6.
1999: Patrick F Chinnery; Douglass M Turnbull
Mitochondrial DNA and disease.
Lancet 1999;354 Suppl 1():SI17-21.
1999: Patrick F Chinnery; Neil Howell; Richard M Andrews; Douglass M Turnbull
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
Journal of medical genetics 1999;36(7):505-10.
1999: Patrick F Chinnery; Neil Howell; Richard M Andrews; Douglass M Turnbull
Clinical mitochondrial genetics.
Journal of medical genetics 1999;36(6):425-36.
1999: Kim M Clark; Robert W Taylor; Margaret A Johnson; Patrick F Chinnery; Zofia M A Chrzanowska-Lightowlers; Richard M Andrews; Isabelle P Nelson; Nicholas W Wood; P J Lamont; Michael G Hanna; Robert N Lightowlers; Douglass M Turnbull
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: Patrick F Chinnery; David Samuels
Relaxed replication of mtDNA: A model with implications for the expression of disease.
American journal of human genetics 1999;64(4):1158-65.
1998: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; D M Turnbull
Genetic counseling and prenatal diagnosis for mtDNA disease.
American journal of human genetics 1998;63(6):1908-11.
1998: Stephen Lynn; Theresa M Wardell; Margaret A Johnson; Patrick F Chinnery; Mark E Daly; Mark Walker; Douglass M Turnbull
Mitochondrial diabetes: investigation and identification of a novel mutation.
Diabetes 1998;47(11):1800-2.
1998: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; Douglass M Turnbull
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: Patrick F Chinnery; Douglass M Turnbull; Neil Howell; Richard M Andrews
Mitochondrial DNA mutations and pathogenicity.
Journal of medical genetics 1998;35(8):701-2.
1998: Robert W Taylor; Patrick F Chinnery; M J Bates; Margaret J Jackson; Margaret A Johnson; Richard M Andrews; Douglass M Turnbull
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: Patrick F Chinnery; Douglass M Turnbull
Mitochondrial medicine.
QJM : monthly journal of the Association of Physicians 1997;90(11):657-67.
1997: Robert N Lightowlers; Patrick F Chinnery; Douglass M Turnbull; Neil Howell
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Trends in genetics : TIG 1997;13(11):450-5.
1997: Patrick F Chinnery; Neil Howell; Robert N Lightowlers; Douglass M Turnbull
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: Patrick F Chinnery; Margaret A Johnson; Robert W Taylor; W F Durward; Douglass M Turnbull
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.
Neurology 1997;49(4):1166-8.
1997: Patrick F Chinnery; P J Reading; D Milne; D Gardner-Medwin; Douglass M Turnbull
CSF antigliadin antibodies and the Ramsay Hunt syndrome.
Neurology 1997;49(4):1131-3.
1997: Patrick F Chinnery; Douglass M Turnbull; Timothy J Walls; P J Reading
Recurrent strokes in a 34-year-old man.
Lancet 1997;350(9077):560.
1997: J E Newkirk; R W Taylor; N Howell; Laurence A Bindoff; Patrick F Chinnery; K G M M Alberti; Douglass M Turnbull; Mark Walker
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: Robert W Taylor; Patrick F Chinnery; Kim M Clark; Robert N Lightowlers; Douglass M Turnbull
Treatment of mitochondrial disease.
Journal of bioenergetics and biomembranes 1997;29(2):195-205.
1997: Patrick F Chinnery; Margaret A Johnson; Robert W Taylor; Robert N Lightowlers; Douglass M Turnbull
A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
Annals of neurology 1997;41(3):408-10.
1997: Robert W Taylor; Patrick F Chinnery; Douglass M Turnbull; Robert N Lightowlers
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.
Nature genetics 1997;15(2):212-5.
1996: Robert W Taylor; Patrick F Chinnery; Faye Haldane; Andrew A M Morris; Laurence A Bindoff; J Wilson; Douglass M Turnbull
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Annals of neurology 1996;40(3):459-62.
1990: P M Bradley; D B Burns; Patrick F Chinnery; A C Webb
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: P M Bradley; B D Burns; Patrick F Chinnery; A C Webb
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.