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Patrick F Chinnery
Patrick F Chinnery
Bestätigte E-Mail-Adresse bei medschl.cam.ac.uk
Titel
Zitiert von
Zitiert von
Jahr
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
39671999
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 2016
13692016
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
9182015
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
JB Stewart, PF Chinnery
Nature Reviews Genetics 16 (9), 530-542, 2015
8842015
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
7962017
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
7162008
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
6842008
Disturbed mitochondrial dynamics and neurodegenerative disorders
F Burté, V Carelli, PF Chinnery, P Yu-Wai-Man
Nature reviews neurology 11 (1), 11-24, 2015
6832015
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
6722015
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
6462011
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
6242003
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
RN Lightowlers, PF Chinnery, DM Turnbull, N Howell
Trends in Genetics 13 (11), 450-455, 1997
6101997
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
6002001
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
5922009
Leber hereditary optic neuropathy
PYW Man, DM Turnbull, PF Chinnery
Journal of medical genetics 39 (3), 162-169, 2002
5782002
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
5682010
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
5592000
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
5542008
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
5542003
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy
T Klopstock, P Yu-Wai-Man, K Dimitriadis, J Rouleau, S Heck, M Bailie, ...
Brain 134 (9), 2677-2686, 2011
5472011
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