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Author/Creator Blakely, Emma L.

1. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance. Issue 2 (14th November 2019)

Authors:
Sommerville, Ewen W.; Dalla Rosa, Ilaria; Rosenberg, Masha M.; Bruni, Francesco; Thompson, Kyle; Rocha, Mariana; Blakely, Emma L.; He, Langping; Falkous, Gavin; Schaefer, Andrew M.; Yu‐Wai‐Man, Patrick; Chinnery, Patrick F.; Hedstrom, Lizbeth; Spinazzola, Antonella; Taylor, Robert W.; Gorman, Grá...
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
276
Record Type:
Journal Article
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2. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013)

Authors:
Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1501
Record Type:
Journal Article
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3. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Issue 11 (17th September 2013)

Authors:
Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W.; Melchionda, Laura; Blakely, Emma L.; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P.; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M.; Haack, Tobias B.; ...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1501
Record Type:
Journal Article
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4. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Issue 1 (12th November 2021)

Authors:
Lim, Albert Z.; Ng, Yi Shiau; Blain, Alasdair; Jiminez‐Moreno, Cecilia; Alston, Charlotte L.; Nesbitt, Victoria; Simmons, Louise; Santra, Saikat; Wassmer, Evangeline; Blakely, Emma L.; Turnbull, Doug M.; Taylor, Robert W.; Gorman, Gráinne S.; McFarland, Robert
Journal:
Annals of neurology
Issue:
Volume 91:Issue 1(2022)
Page Start:
117
Record Type:
Journal Article
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5. NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME. Issue Volume 12:Issues 4(2018) (2018)

Authors:
Kozak, Igor; Oystreck, Darren T.; Abu-Amero, Khaled K.; Nowilaty, Sawsan R.; Alkhalidi, Hisham; Elkhamary, Sahar M.; Mohamed, Sarar; Hamad, Muddathir H. A.; Salih, Mustafa A.; Blakely, Emma L.; Taylor, Robert W.; Bosley, Thomas M.
Journal:
Retinal cases & brief reports
Issue:
Volume 12:Issues 4(2018)
Page Start:
Record Type:
Journal Article
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7. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease. Issue 9 (14th August 2013)

Authors:
Blakely, Emma L.; Yarham, John W.; Alston, Charlotte L.; Craig, Kate; Poulton, Joanna; Brierley, Charlotte; Park, Soo‐Mi; Dean, Andrew; Xuereb, John H.; Anderson, Kirstie N.; Compston, Alistair; Allen, Chris; Sharif, Saba; Enevoldson, Peter; Wilson, Martin; Hammans, Simon R.; Turnbull, Douglass M...
Journal:
Human mutation
Issue:
Volume 34:Issue 9(2013:Sep.)
Page Start:
1260
Record Type:
Journal Article
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8. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. (August 2016)

Authors:
Hardy, Steven A.; Blakely, Emma L.; Purvis, Andrew I.; Rocha, Mariana C.; Ahmed, Syeda; Falkous, Gavin; Poulton, Joanna; Rose, Michael R.; O'Mahony, Olivia; Bermingham, Niamh; Dougan, Charlotte F.; Ng, Yi Shiau; Horvath, Rita; Turnbull, Doug M.; Gorman, Grainne S.; Taylor, Robert W.
Journal:
Neurology
Issue:
Volume 2:Number 4(2016)
Page Start:
Record Type:
Journal Article
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9. Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study. Issue 2 (1st July 2019)

Authors:
Ng, Yi Shiau; Martikainen, Mika H.; Gorman, Gráinne S.; Blain, Alasdair; Bugiardini, Enrico; Bunting, Apphia; Schaefer, Andrew M.; Alston, Charlotte L.; Blakely, Emma L.; Sharma, Sunil; Hughes, Imelda; Lim, Albert; de Goede, Christian; McEntagart, Meriel; Spinty, Stefan; Horrocks, Iain; Roberts, ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
310
Record Type:
Journal Article
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10. Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions. Issue 1 (24th January 2018)

Authors:
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.
Journal:
Annals of neurology
Issue:
Volume 83:Issue 1(2018)
Page Start:
115
Record Type:
Journal Article
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