Emma L. Blakely - Publications, H-index & Citations

Emma L. Blakely

trinity college dublin

48H指数

221论文数

8.6K被引数

收录论文 80

发表时间

Isolated Periodic-Paralysis-Like Syndrome in a Kinship With a Pathogenic MT-ATP6 Variant: A Case Report 孤立性周期性麻痹样综合征：一例携带致病性MT-ATP6变异的家族病例报告

MUSCLE & NERVE

IF3.1

2025-11-01

OAAI

Tallon, Eva; Alexander, Michael; Mchugh, John; Farrell, Michael; Baines, Jack P.; Hopton, Sila; Blakely, Emma L.; Taylor, Robert W.; Murphy, Sinead M.

Lentiviral vectors for hematopoietic stem cell gene therapy restore α-globin expression in α-thalassemia red blood cells 慢病毒载体用于造血干细胞基因治疗，可恢复α-地中海贫血红细胞中的α-球蛋白表达

Cell Reports Medicine

IF10.6

2025-09-17

OAAI

Eva E.R. Segura; Kevyn Hart; Beatriz Campo Fernandez; Devin Brown; Kevin Tam; Andrea Gutierrez Garcia; Eva Seigneurbieux; Karen Li; Carol Mulumba; Emma Blakely; Katelyn Masiuk; Roshani Sinha; Devesh Sharma; John Everett; Matthew Hogenauer; M. Kyle Cromer; Frederic Bushman; Tippi C. MacKenzie; Donald B. Kohn

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres 具有罕见线粒体DNA变异导致肌阵挛癫痫伴破碎红纤维患者的选择性肌肉MRI改变

Neuromuscular Disorders

IF2.8

2025-08-13

PREAI

Taylor Watson-Fargie; David G. Anderson; William Stewart; Cheryl Longman; Sila Hopton; Yi Shiau Ng; Emma L. Blakely; Robert W. Taylor; Maria E. Farrugia

Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness

FRONTIERS IN PHYSIOLOGY

IF3.4

2023-06-08

OAAI

Vila-Sanjurjo, Anton; Mallo, Natalia; Elson, Joanna L.; Smith, Paul M.; Blakely, Emma L.; Taylor, Robert W.

Experimental demonstration of optimal unambiguous two-out-of-four quantum state elimination

PHYSICAL REVIEW RESEARCH

IF4.2

2023-05-12

OAAI

Webb, Jonathan W.; Puthoor, Ittoop, V; Ho, Joseph; Crickmore, Jonathan; Blakely, Emma; Fedrizzi, Alessandro; Andersson, Erika

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-12-13

OAAI

Mavraki, Eleni; Labrum, Robyn; Sergeant, Kate; Alston, Charlotte L. L.; Woodward, Cathy; Smith, Conrad; Knowles, Charlotte V. Y.; Patel, Yogen; Hodsdon, Philip; Baines, Jack P. P.; Blakely, Emma L. L.; Polke, James; Taylor, Robert W. W.; Fratter, Carl

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2022-07-01

OAAI

Shintaku, Jonathan; Pernice, Wolfgang M.; Eyaid, Wafaa; Jeevan, B. G. C.; Brown, Zuben P.; Juanola-Falgarona, Marti; Torres-Torronteras, Javier; Sommerville, Ewen W.; Hellebrekers, Debby M. E. I.; Blakely, Emma L.; Donaldson, Alan; van de laar, Ingrid; Leu, Cheng-Shiun; Marti, Ramon; Frank, Joachim; Tanji, Kurenai; Koolen, David A.; Rodenburg, Richard J.; Chinnery, Patrick F.; Smeets, H. J. M.; Gorman, Grainne S.; Bonnen, Penelope E.; Taylor, Robert W.; Hirano, Michio

Forecasting stroke-like episodes and outcomes in mitochondrial disease 预测线粒体疾病的卒中样发作和结局

BRAIN

IF11.7

2021-12-20

OAAI

Ng, Yi Shiau; Lax, Nichola Z.; Blain, Alasdair P.; Erskine, Daniel; Baker, Mark R.; Polvikoski, Tuomo; Thomas, Rhys H.; Morris, Christopher M.; Lai, Ming; Whittaker, Roger G.; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Blakely, Emma L.; Schaefer, Andrew M.; Turnbull, Doug M.; McFarland, Robert; Gorman, Grainne S.

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

ANNALS OF NEUROLOGY

IF7.7

2021-11-12

OAAI

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, Grainne S.; McFarland, Robert

POLRMT mutations impair mitochondrial transcription causing neurological disease

NATURE COMMUNICATIONS

IF15.7

2021-02-18

OAAI

Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt; Diaz-Maldonado, Hector; Singh, Meenakshi; Sommerville, Ewen W.; Blakely, Emma L.; Collier, Jack J.; Hoberg, Emily; Stranecky, Viktor; Hartmannova, Hana; Bleyer, Anthony J.; McBride, Kim L.; Bowden, Sasigarn A.; Korandova, Zuzana; Pecinova, Alena; Ropers, Hans-Hilger; Kahrizi, Kimia; Najmabadi, Hossein; Tarnopolsky, Mark A.; Brady, Lauren I.; Weaver, K. Nicole; Prada, Carlos E.; Ounap, Katrin; Wojcik, Monica H.; Pajusalu, Sander; Syeda, Safoora B.; Pais, Lynn; Estrella, Elicia A.; Bruels, Christine C.; Kunkel, Louis M.; Kang, Peter B.; Bonnen, Penelope E.; Mracek, Tomas; Kmoch, Stanislav; Gorman, Grainne S.; Falkenberg, Maria; Gustafsson, Claes M.; Taylor, Robert W.

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2020-10-01

OAAI

Alston, Charlotte L.; Blakely, Emma L.; McFarland, Robert; Taylor, Robert W.

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

GENOME BIOLOGY

IF9.4

2020-09-17

OAAI

Lujan, Scott A.; Longley, Matthew J.; Humble, Margaret H.; Lavender, Christopher A.; Burkholder, Adam; Blakely, Emma L.; Alston, Charlotte L.; Gorman, Grainne S.; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.; Kunkel, Thomas A.; Copeland, William C.

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2020-06-02

PREAI

O'Donnell, Luke; Blakely, Emma L.; Baty, Karen; Alexander, Michael; Bogdanova-Mihaylova, Petya; Craig, John; Walsh, Ronan; Brett, Francesca; Taylor, Robert W.; Murphy, Sinead M.

Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells

CARCINOGENESIS

IF2.9

2020-04-07

PREAI

Haumann, Sophie; Boix, Julia; Knuever, Jana; Bieling, Angela; Vila Sanjurjo, Anton; Elson, Joanna L.; Blakely, Emma L.; Taylor, Robert W.; Riet, Nicole; Abken, Hinrich; Kashkar, Hamid; Hue-Tran Hornig-Do; Wiesner, Rudolf J.

Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

JOURNAL OF CLINICAL MEDICINE

IF2.9

2020-03-13

OAAI

Kipper, Karin; Hecht, Max; Antunes, Natalicia J.; Fairbanks, Lynette D.; Levene, Michelle; Ucar, Sema Kalkan; Schaefer, Andrew; Blakely, Emma L.; Bax, Bridget E.

A novel pathogenic m.4412G > A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

Mitochondrion

IF4.5

2019-07-01

OAAI

Lim, Albert Z.; Blakely, Emma L.; Baty, Karen; He, Langping; Hopton, Sila; Falkous, Gavin; McWilliam, Kenneth; Cozens, Alison; McFarland, Robert; Taylor, Robert W.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

ANNALS OF NEUROLOGY

IF7.7

2019-07-01

OAAI

Ng, Yi Shiau; Martikainen, Mika H.; Gorman, Grainne 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, Mark; Woodward, Cathy E.; Chinnery, Patrick F.; Horvath, Rita; Nesbitt, Victoria; Fratter, Carl; Poulton, Joanna; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Turnbull, Doug M.; McFarland, Robert

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

JOURNAL OF CLINICAL MEDICINE

IF2.9

2019-06-04

OAAI

Zierz, Charlotte M.; Baty, Karen; Blakely, Emma L.; Hopton, Sila; Falkous, Gavin; Schaefer, Andrew M.; Hadjivassiliou, Marios; Sarrigiannis, Ptolemaios G.; Ng, Yi Shiau; Taylor, Robert W.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

GENETICS IN MEDICINE

IF6.2

2018-10-01

OAAI

Lenz, Dominic; McClean, Patricia; Kansu, Aydan; Bonnen, Penelope E.; Ranucci, Giusy; Thiel, Christian; Straub, Beate K.; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan W.; Kuloglu, Zarife; Blakely, Emma L.; Taylor, Robert W.; Meitinger, Thomas; Koelker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Haack, Tobias B.; Staufner, Christian

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease m.3243A>G线粒体疾病中的mtDNA异质性水平和拷贝数表明疾病负担

EMBO MOLECULAR MEDICINE

IF8.3

2018-05-07

195

OAAI

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, Grainne S.; McNally, Richard J. Q.; Taylor, Robert W.; Turnbull, Doug M.; McFarland, Robert

研究方向