The genetic basis of isolated mitochondrial complex II deficiency

Por Fullerton, Millie, McFarland, Robert, Taylor, Robert W., Alston, Charlotte L.
Publicado no Mol Genet Metab (2020)

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 no J Neurol Sci (2020)

The genetics and pathology of mitochondrial disease

Por Alston, Charlotte L, Rocha, Mariana C, Lax, Nichola Z, Turnbull, Doug M, Taylor, Robert W
Publicado no J Pathol (2016)

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

Por Lehmann, Diana, Kornhuber, Malte E., Clajus, Carolina, Alston, Charlotte L., Wienke, Andreas, Deschauer, Marcus, Taylor, Robert W., Zierz, Stephan
Publicado no Neurol Genet (2016)

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

Three families with ‘de novo’ m.3243A > G mutation

Por de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.
Publicado no BBA Clin (2016)

Near identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium and hair follicles in twins with optic atrophy, ptosis and intractable epilepsy

Por Spyropoulos, Achilles, Manford, Mark, Horvath, Rita, Alston, Charlotte L, Yu-Wai-Man, Patrick, He, Langping, Taylor, Robert W., Chinnery, Patrick F.
Publicado no JAMA Neurol (2013)

Maternally inherited mitochondrial DNA disease in consanguineous families

Por Alston, Charlotte L, He, Langping, Morris, Andrew A, Hughes, Imelda, Goede, Christian de, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W
Publicado em 2011

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

Mitochondrial dysfunction in myofibrillar myopathy

Por Vincent, Amy E., Grady, John P., Rocha, Mariana C., Alston, Charlotte L., Rygiel, Karolina A., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Publicado no Neuromuscul Disord (2016)

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

Por Sommerville, Ewen W., Alston, Charlotte L., Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F., McFarland, Robert, Taylor, Robert W.
Publicado no Neurol Genet (2017)

Decreased male reproductive success in association with mitochondrial dysfunction

Por Martikainen, Mika H, Grady, John P, Ng, Yi Shiau, Alston, Charlotte L, Gorman, Grainne S, Taylor, Robert W, McFarland, Robert, Turnbull, Doug M
Publicado no Eur J Hum Genet (2017)

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)

Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

Por Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
Publicado no Hum Mutat (2018)

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

Dysferlin mutations and mitochondrial dysfunction

Por Vincent, Amy E., Rosa, Hannah S., Alston, Charlotte L., Grady, John P., Rygiel, Karolina A., Rocha, Mariana C., Barresi, Rita, Taylor, Robert W., Turnbull, Doug M.
Publicado no Neuromuscul Disord (2016)

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

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

Por Ahmed, Syeda T., Alston, Charlotte L., Hopton, Sila, He, Langping, Hargreaves, Iain P., Falkous, Gavin, Oláhová, Monika, McFarland, Robert, Turnbull, Doug M., Rocha, Mariana C., Taylor, Robert W.
Publicado no Sci Rep (2017)

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Por Thompson, Kyle, Collier, Jack J., Glasgow, Ruth I. C., Robertson, Fiona M., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Oláhová, Monika, McFarland, Robert, Taylor, Robert W.
Publicado no J Inherit Metab Dis (2019)