Patrick F Chinnery
Patrick F Chinnery
Verifierad e-postadress på medschl.cam.ac.uk
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Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
RM Andrews, I Kubacka, PF Chinnery, RN Lightowlers, DM Turnbull, ...
Nature genetics 23 (2), 147-147, 1999
35391999
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
6752016
Prevalence of mitochondrial DNA disease in adults
AM Schaefer, R McFarland, EL Blakely, L He, RG Whittaker, RW Taylor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
6472008
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
GS Gorman, AM Schaefer, Y Ng, N Gomez, EL Blakely, CL Alston, ...
Annals of neurology 77 (5), 753-759, 2015
6122015
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
6042017
Pathogenic mitochondrial DNA mutations are common in the general population
HR Elliott, DC Samuels, JA Eden, CL Relton, PF Chinnery
The American journal of human genetics 83 (2), 254-260, 2008
5992008
Leber hereditary optic neuropathy
PYW Man, DM Turnbull, PF Chinnery
Journal of medical genetics 39 (3), 162-169, 2002
5812002
Mitochondrial DNA mutations in human colonic crypt stem cells
RW Taylor, MJ Barron, GM Borthwick, A Gospel, PF Chinnery, ...
The Journal of clinical investigation 112 (9), 1351-1360, 2003
5732003
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
ARJ Curtis, C Fey, CM Morris, LA Bindoff, PG Ince, PF Chinnery, ...
Nature genetics 28 (4), 350-354, 2001
5662001
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
JB Stewart, PF Chinnery
Nature Reviews Genetics 16 (9), 530-542, 2015
5522015
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
RN Lightowlers, PF Chinnery, DM Turnbull, N Howell
Trends in Genetics 13 (11), 450-455, 1997
5431997
Disturbed mitochondrial dynamics and neurodegenerative disorders
F Burté, V Carelli, PF Chinnery, P Yu-Wai-Man
Nature reviews neurology 11 (1), 11-24, 2015
5232015
The epidemiology of pathogenic mitochondrial DNA mutations
PF Chinnery, MA Johnson, TM Wardell, R Singh‐Kler, C Hayes, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
5072000
Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies
P Yu-Wai-Man, PG Griffiths, PF Chinnery
Progress in retinal and eye research 30 (2), 81-114, 2011
4992011
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
L Craven, HA Tuppen, GD Greggains, SJ Harbottle, JL Murphy, LM Cree, ...
Nature 465 (7294), 82-85, 2010
4922010
A unique gene regulatory network resets the human germline epigenome for development
WWC Tang, S Dietmann, N Irie, HG Leitch, VI Floros, CR Bradshaw, ...
Cell 161 (6), 1453-1467, 2015
4842015
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
FLM Norwood, C Harling, PF Chinnery, M Eagle, K Bushby, V Straub
Brain 132 (11), 3175-3186, 2009
4792009
The epidemiology of Leber hereditary optic neuropathy in the North East of England
PYW Man, PG Griffiths, DT Brown, N Howell, DM Turnbull, PF Chinnery
The American Journal of Human Genetics 72 (2), 333-339, 2003
4742003
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
LM Cree, DC Samuels, SC de Sousa Lopes, HK Rajasimha, ...
Nature genetics 40 (2), 249-254, 2008
4662008
The epidemiology of mitochondrial disorders—past, present and future
AM Schaefer, RW Taylor, DM Turnbull, PF Chinnery
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1659 (2-3), 115-120, 2004
4582004
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Artiklar 1–20