Novel method for transaxillary Impella 5.0 implantation in patients with tortuous arterial anatomy

por Fisher, Bryant, Smith, Conrad, Sultan, Ibrahim, Kilic, Arman
Publicado 2021

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

por Ashley, Neil, O'Rourke, Anthony, Smith, Conrad, Adams, Susan, Gowda, Vasantha, Zeviani, Massimo, Brown, Garry K., Fratter, Carl, Poulton, Joanna
Publicado 2008

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

por Uusimaa, Johanna, Gowda, Vasantha, McShane, Anthony, Smith, Conrad, Evans, Julie, Shrier, Annie, Narasimhan, Manisha, O'Rourke, Anthony, Rajabally, Yusuf, Hedderly, Tammy, Cowan, Frances, Fratter, Carl, Poulton, Joanna
Publicado 2013

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

por Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L., Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V. Y., Patel, Yogen, Hodsdon, Philip, Baines, Jack P., Blakely, Emma L., Polke, James, Taylor, Robert W., Fratter, Carl
Publicado 2022

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

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

por Bugiardini, Enrico, Poole, Olivia V., Manole, Andreea, Pittman, Alan M., Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Holton, Janice L., Taanman, Jan-Willem, Plant, Gordon T., Poulton, Joanna, Zeviani, Massimo, Ghezzi, Daniele, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A., Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J., Houlden, Henry, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2017

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

por Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Publicado 2012

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

por Uusimaa, Johanna, Evans, Julie, Smith, Conrad, Butterworth, Anna, Craig, Kate, Ashley, Neil, Liao, Chunyan, Carver, Janet, Diot, Alan, Macleod, Lorna, Hargreaves, Iain, Al-Hussaini, Abdulrahman, Faqeih, Eissa, Asery, Ali, Al Balwi, Mohammed, Eyaid, Wafaa, Al-Sunaid, Areej, Kelly, Deirdre, van Mourik, Indra, Ball, Sarah, Jarvis, Joanna, Mulay, Arundhati, Hadzic, Nedim, Samyn, Marianne, Baker, Alastair, Rahman, Shamima, Stewart, Helen, Morris, Andrew AM, Seller, Anneke, Fratter, Carl, Taylor, Robert W, Poulton, Joanna
Publicado 2014

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023