1-10 of 10
Authors: Maria Falkenberg
Journal Article
Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase Open Access
Human Molecular Genetics, Volume 29, Issue 3, 1 February 2020, Page 528, https://doi.org/10.1093/hmg/ddz257
Published: 14 January 2020
Journal Article
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase Open Access
Human Molecular Genetics, Volume 28, Issue 7, 1 April 2019, Pages 1090–1099, https://doi.org/10.1093/hmg/ddy415
Published: 29 November 2018
Journal Article
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease Open Access
Human Molecular Genetics, Volume 27, Issue 10, 15 May 2018, Pages 1743–1753, https://doi.org/10.1093/hmg/ddy080
Published: 06 March 2018
Journal Article
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma Open Access
Human Molecular Genetics, Volume 26, Issue 13, 1 July 2017, Pages 2515–2525, https://doi.org/10.1093/hmg/ddx146
Published: 17 April 2017
Journal Article
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression Open Access
Human Molecular Genetics, Volume 23, Issue 23, 1 December 2014, Pages 6345–6355, https://doi.org/10.1093/hmg/ddu352
Published: 09 July 2014
Journal Article
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia Free
Human Molecular Genetics, Volume 22, Issue 25, 20 December 2013, Page 5295, https://doi.org/10.1093/hmg/ddt491
Published: 20 December 2013
Journal Article
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia Get access
Human Molecular Genetics, Volume 22, Issue 12, 15 June 2013, Pages 2411–2422, https://doi.org/10.1093/hmg/ddt094
Published: 27 February 2013
Journal Article
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication Open Access
Human Molecular Genetics, Volume 22, Issue 10, 15 May 2013, Pages 1983–1993, https://doi.org/10.1093/hmg/ddt051
Published: 07 February 2013
Journal Article
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia Get access
Human Molecular Genetics, Volume 20, Issue 6, 15 March 2011, Pages 1212–1223, https://doi.org/10.1093/hmg/ddq565
Published: 12 January 2011
Journal Article
Mitochondrial transcription factor A regulates mtDNA copy number in mammals Get access
Human Molecular Genetics, Volume 13, Issue 9, 1 May 2004, Pages 935–944, https://doi.org/10.1093/hmg/ddh109
Published: 11 March 2004
