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1

Mitochondrial diseases

Gorman, Gráinne S., Chinnery, Patrick F., DiMauro, Salvatore, Hirano, Michio, Koga, Yasutoshi, McFarland, Robert, Suomalainen, Anu, Thorburn, David R., Zeviani, Massimo, Turnbull, Douglass M.

Journal:

Nature Reviews Disease Primers

Year:

2016

Language:

english

File:

PDF, 2.75 MB

english, 2016

2

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

Patrick F. Chinnery, Richard M. Andrews, Douglass M. Turnbull, Neil Howell

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 209 KB

english, 2001

3

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Robert McFarland, Denise M. Kirby, Kerry J. Fowler, Akira Ohtake, Michael T. Ryan, David J. Amor, Janice M. Fletcher, Joanne W. Dixon, Felicity A. Collins, Douglass M. Turnbull, Robert W. Taylor, Davi

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 226 KB

english, 2004

4

Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis

Andrew M. Schaefer, Emma L. Blakely, Philip G. Griffiths, Douglass M. Turnbull, Robert W. Taylor

Journal:

Year:

2005

Language:

english

File:

PDF, 113 KB

english, 2005

5

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation

Killian O'Rourke, Mark R. Buddles, Michael Farrell, Rachel Howley, Sunita Sukuraman, Sean Connolly, Douglass M. Turnbull, Michael Hutchinson, Robert W. Taylor

Journal:

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

6

Letters to the editor

Erich W. Streib, Russell J. M. Lane, Douglass M. Turnbull, Peter Hudgson, Professor Sir John Walton, Roger A. Brumback, Jeffery W. Gerst, John Z. Heckmatt, Victor Dubowitz, Ana Lia Taratuto, Alberto D

Journal:

Year:

1984

Language:

english

File:

PDF, 460 KB

english, 1984

7

A double-blind, placebo-controlled, crossover study of verapamil in exertional muscle pain

Dr. Russell J. M. Lane, Dr. Douglass M. Turnbull, Mr. John L. Welch, Sir John Walton

Journal:

Year:

1986

Language:

english

File:

PDF, 599 KB

english, 1986

8

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

Kim J. Krishnan, Andreas Bender, Robert W. Taylor, Douglass M. Turnbull

Journal:

Analytical Biochemistry

Year:

2007

Language:

english

File:

PDF, 111 KB

english, 2007

9

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Blakely, Emma L, de Silva, Rajith, King, Andrew, Schwarzer, Verena, Harrower, Tim, Dawidek, Gervase, Turnbull, Douglass M, Taylor, Robert W

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

10

Mitochondrial DNA mutations and human disease

Helen A.L. Tuppen, Emma L. Blakely, Douglass M. Turnbull, Robert W. Taylor

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 999 KB

english, 2010

11

Differences in the accumulation of mitochondrial defects with age in mice and humans

Laura C. Greaves, Martin J. Barron, George Campbell-Shiel, Thomas B.L. Kirkwood, Douglass M. Turnbull

Journal:

Mechanisms of Ageing and Development

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

12

Nuclear genes and mitochondrial translation: a new class of genetic disease

Howard T. Jacobs, Douglass M. Turnbull

Journal:

Trends in Genetics

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

13

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

Robert N. Lightowlers, Patrick F. Chinnery, Douglass M. Turnbull, Neil Howell

Journal:

Trends in Genetics

Year:

1997

Language:

english

File:

PDF, 791 KB

english, 1997

14

Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions

Matthias Elstner, Sarina K Müller, Lars Leidolt, Christoph Laub, Lena Krieg, Falk Schlaudraff, Birgit Liss, Chris Morris, Douglass M Turnbull, Eliezer Masliah, Holger Prokisch, Thomas Klopstock, Andre

Journal:

Molecular Brain

Year:

2011

Language:

english

File:

PDF, 4.12 MB

english, 2011

15

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Kate Craig, Matthew J. Young, Emma L. Blakely, Matthew J. Longley, Douglass M. Turnbull, William C. Copeland, Robert W. Taylor

Journal:

Year:

2012

Language:

english

File:

PDF, 679 KB

english, 2012

16

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

Robert McFarland, Robert W. Taylor, Patrick F. Chinnery, Neil Howell, Douglass M. Turnbull

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

17

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 826 KB

english, 2002

18

Chronic progressive external ophthalmoplegia — Disease mechanisms and clinical outcome measures

Griffiths, Philip G., Yu-Wai-Man, Cynthia, Smith, Fiona E., Firbank, Michael J., Guthrie, Grant, Guthrie, Stuart, Gorman, Grainne S., Taylor, Robert W., Turnbull, Douglass M., Blamire, Andrew M., Chin

Journal:

Year:

2013

Language:

english

File:

PDF, 76 KB

english, 2013

19

Neuronal oscillations: a physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?

Chan, Felix, Lax, Nichola Z., Davies, Ceri H., Turnbull, Douglass M., Cunningham, Mark O.

Journal:

Neuropharmacology

Year:

2015

Language:

english

File:

PDF, 1.88 MB

english, 2015

20

Nonrandom tissue distribution of mutant mtDNA

Chinnery, Patrick F., Zwijnenburg, Petra J.G., Walker, Mark, Howell, Neil, Taylor, Robert W., Lightowlers, Robert N., Bindoff, Laurence, Turnbull, Douglass M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 201 KB

english, 1999

21

Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death

Gillian M. Borthwick, Margaret A. Johnson, Paul G. Ince, Pamela J. Shaw, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 7.70 MB

english, 1999

22

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

Mark A. Birch-Machin, Robert W. Taylor, Bruce Cochran, Brian A. C. Ackrell, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 778 KB

english, 2000

23

Epidemiology and treatment of mitochondrial disorders

Patrick F. Chinnery, Douglass M. Turnbull

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

24

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Robert W. Taylor, Martina T. McDonnell, Emma L. Blakely, Patrick F. Chinnery, Geoffrey A. Taylor, Neil Howell, Massimo Zeviani, Egill Briem, Franco Carrara, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

25

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

Robert W. Taylor, Rajinder Singh-Kler, Christine M. Hayes, Philip E.M. Smith, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 3.22 MB

english, 2001

26

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation

Robert McFarland, Andrew M. Schaefer, Julie L. Gardner, Stephen Lynn, Christine M. Hayes, Martin J. Barron, Mark Walker, Patrick F. Chinnery, Robert W. Taylor, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 258 KB

english, 2004

27

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

Gillian M. Borthwick, Robert W. Taylor, Timothy J. Walls, Kasia Tonska, Geoffrey A. Taylor, Pamela J. Shaw, Paul G. Ince, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 355 KB

english, 2006

28

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely, Langping He, Roger G. Whittaker, Robert W. Taylor, Patrick F. Chinnery, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 98 KB

english, 2008

29

Reply

Andrew M. Schaefer, Roger Whittaker, Robert McFarland, Patrick F. Chinnery, Robert W. Taylor, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

30

Reply

Matthias Elstner, Peter Lichtner, Claudia Schulte, Thomas Gasser, Thomas Meitinger, Holger Prokisch, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 89 KB

english, 2010

31

Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

Dr. Margaret A. Johnson, Laurence A. Bindoff, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 858 KB

english, 1993

32

Trifunctional enzyme deficiency: Adult presentation of a usually fatal β-oxidation defect

Dr Jochen Schaefer, Sandra Jackson, Douglass M. Turnbull, David J. Dick

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 617 KB

english, 1996

33

Mitochondrial function in muscle from elderly athletes

Dr Elizabeth J. Brierley, Margaret A. Johnson, Andrew Bowman, Gary A. Ford, Feisel Subhan, James W. Reed, OliverF. W. James, Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 318 KB

english, 1997

34

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

Paula L. Adams, Robert N. Lightowlers, Dr. Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 324 KB

english, 1997

35

Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle

Elizabeth J. Brierley, Margaret A. Johnson, Robert N. Lightowlers, Oliver F. W. James, Dr Douglass M. Turnbull

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 1.16 MB

english, 1998

36

Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency

William R. Treem, Piero Rinaldo, Daniel E. Hale, Charles A. Stanley, David S. Millington, Jeffrey S. Hyams, Sandra Jackson, Douglass M. Turnbull

Journal:

Year:

1994

Language:

english

File:

PDF, 762 KB

english, 1994

37

Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse

Helen Andrews, Kathryn White, Christine Thomson, Julia Edgar, David Bates, Ian Griffiths, Douglass Turnbull, Philip Nichols

Journal:

Journal of Neuroscience Research

Year:

2006

Language:

english

File:

PDF, 376 KB

english, 2006

38

Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria

Shelagh A. Lowerson, Louise Taylor, Helen L. Briggs, Douglass M. Turnbull

Journal:

Analytical Biochemistry

Year:

1992

Language:

english

File:

PDF, 396 KB

english, 1992

39

Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations

Lydia Gutierrez-Gonzalez, Maesha Deheragoda, George Elia, Simon J Leedham, Arjun Shankar, Charles Imber, Janusz A Jankowski, Douglass M Turnbull, Marco Novelli, Nicholas A Wright, Stuart AC McDonald

Journal:

The Journal of Pathology

Year:

2009

Language:

english

File:

PDF, 588 KB

english, 2009

40

In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells

John K Blackwood, Stuart C Williamson, Laura C Greaves, Laura Wilson, Anastasia C Rigas, Raveen Sandher, Robert S Pickard, Craig N Robson, Douglass M Turnbull, Robert W Taylor, Rakesh Heer

Journal:

The Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 337 KB

english, 2011

41

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

Andrew A. M. Morris, Robert W. Taylor, Mark A. Birch-Machin, Margaret J. Jackson, Malcolm G. Coulthard, Laurence A. Bindoff, Robert J. Welch, Neil Howell, Douglass M. Turnbull

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 563 KB

english, 1995

42

Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death

Matthias Elstner, Christopher M. Morris, Katharina Heim, Andreas Bender, Divya Mehta, Evelyn Jaros, Thomas Klopstock, Thomas Meitinger, Douglass M. Turnbull, Holger Prokisch

Journal:

Acta Neuropathologica

Year:

2011

Language:

english

File:

PDF, 583 KB

english, 2011

43

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Catherine Phoenix, Geoffrey A. Taylor, Judith Hartley, Hannah Nixon, Paul G. Ince, Pamela J. Shaw, Douglass M. Turnbull, Robert W. Taylor

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 1.28 MB

english, 2007

44

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALysmutation

Emma L. Blakely, Helen Swalwell, Richard K. H. Petty, Robert McFarland, Douglass M. Turnbull, Robert W. Taylor

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 1.34 MB

english, 2007

45

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

Roger G. Whittaker, Andrew M. Schaefer, Robert W. Taylor, Douglass M. Turnbull

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 1.21 MB

english, 2007

46

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree

Neil Howell, Iwona Kubacka, Sharon M. Keers, Douglass M. Turnbull, Patrick F. Chinnery

Journal:

Year:

2005

Language:

english

File:

PDF, 236 KB

english, 2005

47

Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?

Joanna L. Elson, Corinna Herrnstadt, Gwen Preston, Leon Thal, Christopher M. Morris, J. A. Edwardson, M. Flint Beal, Douglass M. Turnbull, Neil Howell

Journal:

Year:

2006

Language:

english

File:

PDF, 312 KB

english, 2006

48

Experimental Strategies Towards Treating Mitochondrial DNA Disorders

Julie L. Gardner, Lyndsey Craven, Douglass M. Turnbull, Robert W. Taylor

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 257 KB

english, 2007

49

Prevalence and severity of voice and swallowing difficulties in mitochondrial disease

Jennifer L. Read, Roger G. Whittaker, Nick Miller, Sue Clark, Robert Taylor, Robert McFarland, Douglass Turnbull

Journal:

International Journal of Language & Communication Disorders

Year:

2012

Language:

english

File:

PDF, 479 KB

english, 2012

50

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

Emma L. Blakely, Anna L. Mitchell, Nicholas Fisher, Brigitte Meunier, Leo G. Nijtmans, Andrew M. Schaefer, Margaret J. Jackson, Douglass M. Turnbull, Robert W. Taylor

Journal:

Year:

2005

Language:

english

File:

PDF, 338 KB

english, 2005