Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

Por Gilbert, Rodney D., Stanley, Louise K., Fowler, Darren J., Angus, Elizabeth M., Hardy, Steven A., Goodship, Timothy H.
Publicado em 2013

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

Por Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
Publicado no Neurol Genet (2017)

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 no Br J Ophthalmol (2017)

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)

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

Por Ng, Yi Shiau, Hardy, Steven A., Shrier, Venice, Quaghebeur, Gerardine, Mole, David R., Daniels, Matthew J., Downes, Susan M., Freebody, Jane, Fratter, Carl, Hofer, Monika, Nemeth, Andrea H., Poulton, Joanna, Taylor, Robert W.
Publicado no Neuromuscul Disord (2016)

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado no Front Genet (2015)

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado no Front Genet (2015)

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

Por Hardy, Steven A., Blakely, Emma L., Purvis, Andrew I., Rocha, Mariana C., Ahmed, Syeda, Falkous, Gavin, Poulton, Joanna, Rose, Michael R., O'Mahony, Olivia, Bermingham, Niamh, Dougan, Charlotte F., Ng, Yi Shiau, Horvath, Rita, Turnbull, Doug M., Gorman, Grainne S., Taylor, Robert W.
Publicado no Neurol Genet (2016)

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Por Ng, Yi Shiau, Grady, John P., Lax, Nichola Z., Bourke, John P., Alston, Charlotte L., Hardy, Steven A., Falkous, Gavin, Schaefer, Andrew G., Radunovic, Aleksandar, Mohiddin, Saidi A., Ralph, Matilda, Alhakim, Ali, Taylor, Robert W., McFarland, Robert, Turnbull, Douglass M., Gorman, Gráinne S.
Publicado no Eur Heart J (2016)

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Por Oláhová, Monika, Thompson, Kyle, Hardy, Steven A., Barbosa, Inês A., Besse, Arnaud, Anagnostou, Maria-Eleni, White, Kathryn, Davey, Tracey, Simpson, Michael A., Champion, Michael, Enns, Greg, Schelley, Susan, Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M. A., McFarland, Robert, Deshpande, Charu, Bonnen, Penelope E., Taylor, Robert W.
Publicado no J Inherit Metab Dis (2016)

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Por Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.
Publicado no Front Genet (2015)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Por Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W
Publicado no J Med Genet (2016)

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Por Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, Andrew A. M., Mundy, Helen, Broomfield, Alex, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Publicado no Brain (2015)