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21.
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Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability. [electronic resource] by
- Moore, Heather L
- Kelly, Thomas
- Bright, Alexandra
- Field, Robert H
- Schaefer, Andrew M
- Blain, Alasdair P
- Taylor, Robert W
- McFarland, Robert
- Turnbull, Doug M
- Gorman, Gráinne S
Producer: 20200323
In:
Annals of clinical and translational neurology vol. 6
Availability: No items available.
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22.
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Novel [electronic resource] by
- Ng, Yi Shiau
- Thompson, Kyle
- Loher, Daniela
- Hopton, Sila
- Falkous, Gavin
- Hardy, Steven A
- Schaefer, Andrew M
- Shaunak, Sandip
- Roberts, Mark E
- Lilleker, James B
- Taylor, Robert W
Publication details: Frontiers in genetics 2020
In:
Frontiers in genetics vol. 11
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23.
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Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease. [electronic resource] by
- Newman, Jane
- Galna, Brook
- Jakovljevic, Djordje G
- Bates, Matthew G
- Schaefer, Andrew M
- McFarland, Robert
- Turnbull, Douglass M
- Trenell, Michael I
- Taylor, Robert W
- Rochester, Lynn
- Gorman, Gráinne S
Publication details: Journal of neuromuscular diseases Jun 2015
In:
Journal of neuromuscular diseases vol. 2
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24.
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Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. [electronic resource] by
- Pickett, Sarah J
- Grady, John P
- Ng, Yi Shiau
- Gorman, Gráinne S
- Schaefer, Andrew M
- Wilson, Ian J
- Cordell, Heather J
- Turnbull, Doug M
- Taylor, Robert W
- McFarland, Robert
Publication details: Annals of clinical and translational neurology 03 2018
In:
Annals of clinical and translational neurology vol. 5
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25.
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Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease. [electronic resource] by
- Boal, Rachel L
- Ng, Yi Shiau
- Pickett, Sarah J
- Schaefer, Andrew M
- Feeney, Catherine
- Bright, Alexandra
- Taylor, Robert W
- Turnbull, Doug M
- Gorman, Grainne S
- Cheetham, Tim
- McFarland, Robert
Producer: 20200505
In:
The Journal of clinical endocrinology and metabolism vol. 104
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26.
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Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. [electronic resource] by
- Sommerville, Ewen W
- Jones, Rachel L
- Hardy, Steven A
- Blakely, Emma L
- Pyle, Angela
- Schaefer, Andrew M
- Chinnery, Patrick F
- Turnbull, Douglass M
- Gorman, Gráinne S
- Taylor, Robert W
Publication details: Neurology. Genetics Dec 2017
In:
Neurology. Genetics vol. 3
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27.
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Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. [electronic resource] by
- Erskine, Daniel
- Reeve, Amy K
- Polvikoski, Tuomo
- Schaefer, Andrew M
- Taylor, Robert W
- Lax, Nichola Z
- El-Agnaf, Omar
- Attems, Johannes
- Gorman, Gráinne S
- Turnbull, Doug M
- Ng, Yi Shau
Producer: 20210119
In:
Acta neuropathologica vol. 139
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28.
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Disease progression in patients with single, large-scale mitochondrial DNA deletions. [electronic resource] by
- Grady, John P
- Campbell, Georgia
- Ratnaike, Thiloka
- Blakely, Emma L
- Falkous, Gavin
- Nesbitt, Victoria
- Schaefer, Andrew M
- McNally, Richard J
- Gorman, Grainne S
- Taylor, Robert W
- Turnbull, Doug M
- McFarland, Robert
Producer: 20140411
In:
Brain : a journal of neurology vol. 137
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29.
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Epilepsy in adults with mitochondrial disease: A cohort study. [electronic resource] by
- Whittaker, Roger G
- Devine, Helen E
- Gorman, Grainne S
- Schaefer, Andrew M
- Horvath, Rita
- Ng, Yi
- Nesbitt, Victoria
- Lax, Nichola Z
- McFarland, Robert
- Cunningham, Mark O
- Taylor, Robert W
- Turnbull, Douglass M
Producer: 20160526
In:
Annals of neurology vol. 78
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30.
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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. [electronic resource] by
- Martikainen, Mika H
- Ng, Yi Shiau
- Gorman, Gráinne S
- Alston, Charlotte L
- Blakely, Emma L
- Schaefer, Andrew M
- Chinnery, Patrick F
- Burn, David J
- Taylor, Robert W
- McFarland, Robert
- Turnbull, Doug M
Producer: 20170525
In:
JAMA neurology vol. 73
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31.
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Consensus-based statements for the management of mitochondrial stroke-like episodes. [electronic resource] by
- Ng, Yi Shiau
- Bindoff, Laurence A
- Gorman, Gráinne S
- Horvath, Rita
- Klopstock, Thomas
- Mancuso, Michelangelo
- Martikainen, Mika H
- Mcfarland, Robert
- Nesbitt, Victoria
- Pitceathly, Robert D S
- Schaefer, Andrew M
- Turnbull, Doug M
Publication details: Wellcome open research 2019
In:
Wellcome open research vol. 4
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32.
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The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. [electronic resource] by
- Vincent, Amy E
- Ng, Yi Shiau
- White, Kathryn
- Davey, Tracey
- Mannella, Carmen
- Falkous, Gavin
- Feeney, Catherine
- Schaefer, Andrew M
- McFarland, Robert
- Gorman, Grainne S
- Taylor, Robert W
- Turnbull, Doug M
- Picard, Martin
Producer: 20180419
In:
Scientific reports vol. 6
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33.
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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. [electronic resource] by
- Gorman, Gráinne S
- Schaefer, Andrew M
- Ng, Yi
- Gomez, Nicholas
- Blakely, Emma L
- Alston, Charlotte L
- Feeney, Catherine
- Horvath, Rita
- Yu-Wai-Man, Patrick
- Chinnery, Patrick F
- Taylor, Robert W
- Turnbull, Douglass M
- McFarland, Robert
Producer: 20150622
In:
Annals of neurology vol. 77
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34.
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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. [electronic resource] by
- Hudson, Gavin
- Amati-Bonneau, Patrizia
- Blakely, Emma L
- Stewart, Joanna D
- He, Langping
- Schaefer, Andrew M
- Griffiths, Philip G
- Ahlqvist, Kati
- Suomalainen, Anu
- Reynier, Pascal
- McFarland, Robert
- Turnbull, Douglass M
- Chinnery, Patrick F
- Taylor, Robert W
Producer: 20080423
In:
Brain : a journal of neurology vol. 131
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35.
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Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. [electronic resource] by
- Wesolowska, Maria
- Gorman, Grainne S
- Alston, Charlotte L
- Pajak, Aleksandra
- Pyle, Angela
- He, Langping
- Griffin, Helen
- Chinnery, Patrick F
- Miller, James A L
- Schaefer, Andrew M
- Taylor, Robert W
- Lightowlers, Robert N
- Chrzanowska-Lightowlers, Zofia M
Publication details: Journal of neuromuscular diseases Oct 2015
In:
Journal of neuromuscular diseases vol. 2
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36.
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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. [electronic resource] by
- Ng, Yi Shiau
- Feeney, Catherine
- Schaefer, Andrew M
- Holmes, Carol Ellen
- Hynd, Paula
- Alston, Charlotte L
- Grady, John P
- Roberts, Mark
- Maguire, Mellisa
- Bright, Alexandra
- Taylor, Robert W
- Yiannakou, Yan
- McFarland, Robert
- Turnbull, Doug M
- Gorman, Gráinne S
Producer: 20170605
In:
Annals of neurology vol. 80
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37.
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Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. [electronic resource] by
- Gorman, Gráinne S
- Pfeffer, Gerald
- Griffin, Helen
- Blakely, Emma L
- Kurzawa-Akanbi, Marzena
- Gabriel, Jessica
- Sitarz, Kamil
- Roberts, Mark
- Schoser, Benedikt
- Pyle, Angela
- Schaefer, Andrew M
- McFarland, Robert
- Turnbull, Douglass M
- Horvath, Rita
- Chinnery, Patrick F
- Taylor, Robert W
Producer: 20150318
In:
JAMA neurology vol. 72
Availability: No items available.
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38.
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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. [electronic resource] by
- Alston, Charlotte L
- Schaefer, Andrew M
- Raman, Pravrutha
- Solaroli, Nicola
- Krishnan, Kim J
- Blakely, Emma L
- He, Langping
- Craig, Kate
- Roberts, Mark
- Vyas, Aashish
- Nixon, John
- Horvath, Rita
- Turnbull, Douglass M
- Karlsson, Anna
- Gorman, Grainne S
- Taylor, Robert W
Producer: 20140127
In:
Neurology vol. 81
Availability: No items available.
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39.
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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. [electronic resource] by
- Grady, John P
- Pickett, Sarah J
- Ng, Yi Shiau
- Alston, Charlotte L
- Blakely, Emma L
- Hardy, Steven A
- Feeney, Catherine L
- Bright, Alexandra A
- Schaefer, Andrew M
- Gorman, Gráinne S
- McNally, Richard Jq
- Taylor, Robert W
- Turnbull, Doug M
- McFarland, Robert
Producer: 20190423
In:
EMBO molecular medicine vol. 10
Availability: No items available.
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40.
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Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. [electronic resource] by
- Rocha, Mariana C
- Rosa, Hannah S
- Grady, John P
- Blakely, Emma L
- He, Langping
- Romain, Nadine
- Haller, Ronald G
- Newman, Jane
- McFarland, Robert
- Ng, Yi Shiau
- Gorman, Grainne S
- Schaefer, Andrew M
- Tuppen, Helen A
- Taylor, Robert W
- Turnbull, Doug M
Producer: 20190122
In:
Annals of neurology vol. 83
Availability: No items available.
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