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Author/Creator Blakely, Emma L.

11. POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism. Issue 1 (16th November 2016)

Authors:
Van Maldergem, Lionel; Besse, Arnaud; De Paepe, Boel; Blakely, Emma L.; Appadurai, Vivek; Humble, Margaret M.; Piard, Juliette; Craig, Kate; He, Langping; Hella, Pierre; Debray, François‐Guillaume; Martin, Jean‐Jacques; Gaussen, Marion; Laloux, Patrice; Stevanin, Giovanni; Van Coster, Rudy; Taylo...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 4:Issue 1(2017)
Page Start:
4
Record Type:
Journal Article
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12. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Issue 5 (28th March 2015)

Authors:
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
Journal:
Annals of neurology
Issue:
Volume 77:Issue 5(2015:May)
Page Start:
753
Record Type:
Journal Article
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13. Recent advances in understanding the molecular genetic basis of mitochondrial disease. Issue 1 (10th May 2019)

Authors:
Thompson, Kyle; Collier, Jack J.; Glasgow, Ruth I. C.; Robertson, Fiona M.; Pyle, Angela; Blakely, Emma L.; Alston, Charlotte L.; Oláhová, Monika; McFarland, Robert; Taylor, Robert W.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 1(2020)
Page Start:
36
Record Type:
Journal Article
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14. The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness. (2nd April 2016)

Authors:
Kullar, Peter; Chinnery, Patrick F.; Alston, Charlotte L.; Blakely, Emma L.; Taylor, Robert W.; Ball, Sarah; Differ, Ann-Marie; Fratter, Carl; Sweeney, Mary G.
Journal:
Hearing, balance and communication
Issue:
Volume 14:Number 2(2016:Jun.)
Page Start:
101
Record Type:
Journal Article
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15. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. (17th May 2016)

Authors:
Dombi, Eszter; Diot, Alan; Morten, Karl; Carver, Janet; Lodge, Tiffany; Fratter, Carl; Ng, Yi Shiau; Liao, Chunyan; Muir, Rebecca; Blakely, Emma L.; Hargreaves, Iain; Al-Dosary, Mazhor; Sarkar, Gopa; Hickman, Simon J.; Downes, Susan M.; Jayawant, Sandeep; Yu-Wai-Man, Patrick; Taylor, Robert W.; P...
Journal:
Neurology
Issue:
Volume 86:Number 20(2016)
Page Start:
Record Type:
Journal Article
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