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

por Alston, Charlotte L., Blakely, Emma L., McFarland, Robert, Taylor, Robert W.
Publicado 2020

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

por Vila-Sanjurjo, Antón, Mallo, Natalia, Elson, Joanna L., Smith, Paul M., Blakely, Emma L., Taylor, Robert W.
Publicado 2023

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

por Zamzami, Mazin A, Price, Gareth R, Taylor, Robert W, Blakely, Emma L, Oancea, Iulia, Bowling, Francis, Duley, John A
Publicado 2011

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

por Blakely, Emma L., Butterworth, Anna, Hadden, Robert D.M., Bodi, Istvan, He, Langping, McFarland, Robert, Taylor, Robert W.
Publicado 2012

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus
Publicado 2015

Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

por Elwan, Menatalla, Schaefer, Andrew M, Craig, Kate, Hopton, Sila, Falkous, Gavin, Blakely, Emma L, Taylor, Robert W, Warren, Naomi
Publicado 2022

Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation

por Blakely, Emma L., Alston, Charlotte L., Lecky, Bryan, Chakrabarti, Biswajit, Falkous, Gavin, Turnbull, Douglass M., Taylor, Robert W., Gorman, Grainne S.
Publicado 2014

Mitochondrial pathology in progressive cerebellar ataxia

por Bargiela, David, Shanmugarajah, Priya, Lo, Christine, Blakely, Emma L., Taylor, Robert W., Horvath, Rita, Wharton, Stephen, Chinnery, Patrick F., Hadjivassiliou, Marios
Publicado 2015

Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

por Grady, John P., Murphy, Julie L., Blakely, Emma L., Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M., Tuppen, Helen A. L.
Publicado 2014

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

por Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Publicado 2016

Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant

por Gill, Jaidip S, Hardy, Steven A, Blakely, Emma L, Hopton, Sila, Nemeth, Andrea H, Fratter, Carl, Poulton, Joanna, Taylor, Robert W, Downes, Susan M
Publicado 2017

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...

por Kipper, Karin, Hecht, Max, Antunes, Natalicia J., Fairbanks, Lynette D., Levene, Michelle, Kalkan Uçar, Sema, Schaefer, Andrew, Blakely, Emma L., Bax, Bridget E.
Publicado 2020

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease

por Yarham, John W., Blakely, Emma L., Alston, Charlotte L., Roberts, Mark E., Ealing, John, Pal, Piyali, Turnbull, Douglass M., McFarland, Robert, Taylor, Robert W.
Publicado 2013

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

por Lim, Albert Z., Blakely, Emma L., Baty, Karen, He, Langping, Hopton, Sila, Falkous, Gavin, McWilliam, Kenneth, Cozens, Alison, McFarland, Robert, Taylor, Robert W.
Publicado 2019

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

por Spendiff, Sally, Reza, Mojgan, Murphy, Julie L., Gorman, Grainne, Blakely, Emma L., Taylor, Robert W., Horvath, Rita, Campbell, Georgia, Newman, Jane, Lochmüller, Hanns, Turnbull, Doug M.
Publicado 2013

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

por 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.
Publicado 2019

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

por Murphy, Julie L., Ratnaike, Thiloka E., Shang, Ersong, Falkous, Gavin, Blakely, Emma L., Alston, Charlotte L., Taivassalo, Tanja, Haller, Ronald G., Taylor, Robert W., Turnbull, Doug M.
Publicado 2012

A national perspective on prenatal testing for mitochondrial disease

por Nesbitt, Victoria, Alston, Charlotte L, Blakely, Emma L, Fratter, Carl, Feeney, Catherine L, Poulton, Joanna, Brown, Garry K, Turnbull, Doug M, Taylor, Robert W, McFarland, Robert
Publicado 2014

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

por Rygiel, Karolina A., Tuppen, Helen A., Grady, John P., Vincent, Amy, Blakely, Emma L., Reeve, Amy K., Taylor, Robert W., Picard, Martin, Miller, James, Turnbull, Doug M.
Publicado 2016

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

por Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Publicado 2015