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

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

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

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

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

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

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

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

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

by 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.
Published 2012

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

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

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

by 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.
Published 2013

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

by 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
Published 2015

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

by 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.
Published 2016

Mitochondrial pathology in progressive cerebellar ataxia

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

A national perspective on prenatal testing for mitochondrial disease

by 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
Published 2014

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

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

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

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

Disease progression in patients with single, large-scale mitochondrial DNA deletions

by Grady, John P., Campbell, Georgia, Ratnaike, Thiloka, Blakely, Emma L., Falkous, Gavin, Nesbitt, Victoria, Schaefer, Andrew M., McNally, Richard J., Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
Published 2014

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

by Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Published 2015

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

by 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
Published 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

by Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.
Published 2014

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

by 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, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
Published 2013

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

by 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, McFarland, Robert, Taylor, Robert W
Published 2013

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

by Yarham, John W., Lamichhane, Tek N., Pyle, Angela, Mattijssen, Sandy, Baruffini, Enrico, Bruni, Francesco, Donnini, Claudia, Vassilev, Alex, He, Langping, Blakely, Emma L., Griffin, Helen, Santibanez-Koref, Mauro, Bindoff, Laurence A., Ferrero, Ileana, Chinnery, Patrick F., McFarland, Robert, Maraia, Richard J., Taylor, Robert W.
Published 2014