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Joanna Poulton
Joanna Poulton
Professor of Mitochondrial Genetics, University of Oxford, UK
Verified email at wrh.ox.ac.uk
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Cited by
Year
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
11319*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
9172001
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
6832017
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
4491991
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
3981996
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
2942010
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
2662004
Duplications of mitochondrial DNA in mitochondrial myopathy
J Poulton, ME Deadman, RM Gardiner
The Lancet 333 (8632), 236-240, 1989
2561989
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
2542004
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
2532001
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
2362002
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
2291999
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
2231999
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
2172001
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
2001999
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
1961993
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
1961993
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
1941994
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
1911998
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
1861997
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