Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy

por King, Martin S., Thompson, Kyle, Hopton, Sila, He, Langping, Kunji, Edmund R.S., Taylor, Robert W., Ortiz-Gonzalez, Xilma R.
Publicado 2018

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

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

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

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

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 2017

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

por Ng, Yi Shiau, Thompson, Kyle, Loher, Daniela, Hopton, Sila, Falkous, Gavin, Hardy, Steven A., Schaefer, Andrew M., Shaunak, Sandip, Roberts, Mark E., Lilleker, James B., Taylor, Robert W.
Publicado 2020

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

por Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
Publicado 2020

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity

por Baty, Karen, Farrugia, Maria E., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Stewart, William, Willison, Hugh J., Reilly, Mary M., Blakely, Emma L., Taylor, Robert W., Ng, Yi Shiau
Publicado 2021

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

por Peter, Bradley, Waddington, Christie L, Oláhová, Monika, Sommerville, Ewen W, Hopton, Sila, Pyle, Angela, Champion, Michael, Ohlson, Monica, Siibak, Triinu, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Falkenberg, Maria, Lightowlers, Robert N
Publicado 2018

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

por Rosenberger, Florian A, Tang, Jia Xin, Sergeant, Kate, Moedas, Marco F, Zierz, Charlotte M, Moore, David, Smith, Conrad, Lewis, David, Guha, Nishan, Hopton, Sila, Falkous, Gavin, Lam, Amanda, Pyle, Angela, Poulton, Joanna, Gorman, Gráinne S, Taylor, Robert W, Freyer, Christoph, Wredenberg, Anna
Publicado 2022

Metabolic effects of bezafibrate in mitochondrial disease

por Steele, Hannah, Gomez‐Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F
Publicado 2020

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

por Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.
Publicado 2020

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

por Hayhurst, Hannah, de Coo, Irenaeus F. M., Piekutowska‐Abramczuk, Dorota, Alston, Charlotte L., Sharma, Sunil, Thompson, Kyle, Rius, Rocio, He, Langping, Hopton, Sila, Ploski, Rafal, Ciara, Elzbieta, Lake, Nicole J., Compton, Alison G., Delatycki, Martin B., Verrips, Aad, Bonnen, Penelope E., Jones, Simon A., Morris, Andrew A., Shakespeare, David, Christodoulou, John, Wesol‐Kucharska, Dorota, Rokicki, Dariusz, Smeets, Hubert J. M., Pronicka, Ewa, Thorburn, David R., Gorman, Grainne S., McFarland, Robert, Taylor, Robert W., Ng, Yi Shiau
Publicado 2019

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

por Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Publicado 2023