Blakely Emma L - Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University

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论文共 114 篇作者统计合作学者相似作者

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The Role of Mito-Ribosomal Fidelity in Human Disease: Structural Analysis of Deafness-Related Mtdna Variants Mapping to Mitochondrial Rrna Genes

Antón Vila-Sanjurjo,Natalia Mallo,John Atkins,Joanna L. Elson,Paul M. Smith,Emma L. Blakely,Robert W. Taylor

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseaseno. 8 (2024): 167407

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Scientific Business Abstracts

Faye Cooles,Gemma Vidal-Pedrola,Najib Naamane,Arthur Pratt,Ben Barron-Millar, Amy Anderson,Catharien Hilkens,John Casement, Vincent Bondet, Darragh Duffy, Fan Zhang,Ruchi Shukla,

QJM monthly journal of the Association of Physicians (2024)

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Structural Analysis of Mitochondrial Rrna Gene Variants Identified in Patients with Deafness

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

Frontiers in physiology（2023）

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Genetic Testing for Mitochondrial Disease: the United Kingdom Best Practice Guidelines

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

European journal of human genetics EJHGno. 2 (2022): 148-163

引用10浏览0WOSNATURE引用

RRM1 Variants Cause a Mitochondrial DNA Maintenance Disorder Via Impaired De Novo Nucleotide Synthesis

Jonathan Shintaku,Wolfgang M. Pernice,Wafaa Eyaid,B. G. C. Jeevan,Zuben P. Brown,Marti Juanola-Falgarona,Javier Torres-Torronteras,Ewen W. Sommerville,Debby M. E. I. Hellebrekers,Emma L. Blakely,Alan Donaldson,Ingrid van de laar,

The Journal of clinical investigation/The journal of clinical investigation（2022）

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

Albert Z. Lim,Yi Shiau Ng,Alasdair Blain, Cecilia Jiminez-Moreno,Charlotte L. Alston,Victoria Nesbitt,Louise Simmons,Saikat Santra,Evangeline Wassmer,Emma L. Blakely,Doug M. Turnbull,Robert W. Taylor,

ANNALS OF NEUROLOGY（2022）

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Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

Róisín M. Boggan,Yi Shiau Ng,Imogen G. Franklin,Charlotte L. Alston,Emma L. Blakely,Boriana Büchner,Enrico Bugiardini,Kevin Colclough,Catherine Feeney,Michael G. Hanna,Andrew T. Hattersley,Thomas Klopstock,

medRxiv (Cold Spring Harbor Laboratory) (2022)

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Forecasting Stroke-Like Episodes and Outcomes in Mitochondrial Disease

Yi Shiau Ng,Nichola Z. Lax,Alasdair P. Blain,Daniel Erskine,Mark R. Baker,Tuomo Polvikoski,Rhys H. Thomas,Christopher M. Morris,Ming Lai,Roger G. Whittaker, Alasdair Gebbels, Amy Winder,

Brain（2021）

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POLRMT mutations impair mitochondrial transcription causing neurological disease

Monika Oláhová,Bradley Peter,Zsolt Szilagyi,Hector Diaz-Maldonado,Meenakshi Singh,Ewen W. Sommerville,Emma L. Blakely,Jack J. Collier,Emily Hoberg,Viktor Stránecký,Hana Hartmannová,Anthony J. Bleyer,

NATURE COMMUNICATIONSno. 1 (2021): 1-13

引用18浏览0WOSNATURE引用

Uniparental Isodisomy of Chromosome 2 Causing MRPL44-related Multisystem Mitochondrial Disease

Hospital Clínico San Carlos and Instituto de Investigación Sanitaria San Carlos (IdISSC), UCL Queen Square Institute of Neurology,Mitchell Alice L.,Bugiardini Enrico,Hargreaves Iain P.,Mowafi Walied,Bettencourt Conceição,Blakely Emma L.,He Langping,Polke James M.,Woodward Catherine E.,Dalla Rosa Ilaria,

Molecular biology reports（2021）

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