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 em 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 em 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 no Neuromuscul Disord (2015)

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Por Craig, Kate, Young, Matthew J., Blakely, Emma L., Longley, Matthew J., Turnbull, Douglass M., Copeland, William C., Taylor, Robert W.
Publicado em 2011

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 em 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 no Cerebellum Ataxias (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 no PLoS One (2014)

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

Por He, Langping, Chinnery, Patrick F., Durham, Steve E., Blakely, Emma L., Wardell, Theresa M., Borthwick, Gillian M., Taylor, Robert W., Turnbull, Douglass M.
Publicado em 2002

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Por Pfeffer, Gerald, Blakely, Emma L, Alston, Charlotte L, Hassani, Adam, Boggild, Mike, Horvath, Rita, Samuels, David C, Taylor, Robert W, Chinnery, Patrick F
Publicado em 2012

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 no BMC Res Notes (2016)

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

Por Kullar, Peter, Alston, Charlotte L., Ball, Sarah, Blakely, Emma L., Differ, Ann-Marie, Fratter, Carl, Sweeney, Mary G., Taylor, Robert W., Chinnery, Patrick F.
Publicado no Hearing Balance Commun (2016)

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 em 2013

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 em 2013

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 em 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 em 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 no Nucleic Acids Res (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 no Eur J Hum Genet (2015)

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

Por 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.
Publicado no Genet Med (2014)

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

Por Lax, Nichola Z., Whittaker, Roger G., Hepplewhite, Philippa D., Reeve, Amy K., Blakely, Emma L., Jaros, Evelyn, Ince, Paul G., Taylor, Robert W., Fawcett, Peter R. W., Turnbull, Doug M.
Publicado em 2012

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

Por 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
Publicado em 2014