Joanna Poulton
Joanna Poulton
Professor of Mitochondrial Genetics, University of Oxford, UK
Verified email at
Cited by
Cited by
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan, M Tariq, S Wanrooij, ...
Nature genetics 28 (3), 223-231, 2001
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
N Howell, LA Bindoff, DA McCullough, I Kubacka, J Poulton, D Mackey, ...
American journal of human genetics 49 (5), 939, 1991
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
DA Mackey, RJ Oostra, T Rosenberg, E Nikoskelainen, J Bronte-Stewart, ...
American journal of human genetics 59 (2), 481, 1996
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ...
Nature genetics 42 (12), 1131-1134, 2010
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
H Tyynismaa, H Sembongi, M Bokori-Brown, C Granycome, N Ashley, ...
Human molecular genetics 13 (24), 3219-3227, 2004
Duplications of mitochondrial DNA in mitochondrial myopathy
J Poulton, ME Deadman, RM Gardiner
The Lancet 333 (8632), 236-240, 1989
Risk of developing a mitochondrial DNA deletion disorder
PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ...
The Lancet 364 (9434), 592-596, 2004
Decrease of 3243 A→ G mtDNA mutation from blood in MELAS syndrome: a longitudinal study
S Rahman, J Poulton, D Marchington, A Suomalainen
The American Journal of Human Genetics 68 (1), 238-240, 2001
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case–control study
J Poulton, J Luan, V Macaulay, S Hennings, J Mitchell, NJ Wareham
Human molecular genetics 11 (13), 1581-1583, 2002
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
RK Naviaux, WL Nyhan, BA Barshop, J Poulton, D Markusic, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
C Hardy, F Khanim, R Torres, M Scott-Brown, A Seller, J Poulton, ...
The American Journal of Human Genetics 65 (5), 1279-1290, 1999
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
AT Rovio, DR Marchington, S Donat, HC Schuppe, J Abel, E Fritsche, ...
Nature genetics 29 (3), 261-262, 2001
The insulin gene VNTR, type 2 diabetes and birth weight
KKL Ong, DI Phillips, C Fall, J Poulton, ST Bennett, J Golding, JA Todd, ...
Nature Genetics 21 (3), 262-263, 1999
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.
LA Bindoff, N Howell, J Poulton, DA McCullough, KJ Morten, ...
Journal of Biological Chemistry 268 (26), 19559-19564, 1993
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
J Poulton, ME Deadman, L Bindoff, K Morten, J Land, G Brown
Human Molecular Genetics 2 (1), 23-30, 1993
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
J Poulton, K Morten, C Freeman-Emmerson, C Potter, C Sewry, ...
Human Molecular Genetics 3 (10), 1763-1769, 1994
A common mitochondrial DNA variant is associated with insulin resistance in adult life
J Poulton, MS Brown, A Cooper, DR Marchington, DIW Phillips
Diabetologia 41 (1), 54-58, 1998
Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck.
DR Marchington, GM Hartshorne, D Barlow, J Poulton
American journal of human genetics 60 (2), 408, 1997
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