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

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

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

由 Reimann, Jens, Lehmann, Diana, Hardy, Steven A., Falkous, Gavin, Knowles, Charlotte V.Y., Jones, Rachel L., Kunz, Wolfram S., Taylor, Robert W., Kornblum, Cornelia
發表在 Neurol Genet (2017)

Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant

由 Gill, Jaidip S, Hardy, Steven A, Blakely, Emma L, Hopton, Sila, Nemeth, Andrea H, Fratter, Carl, Poulton, Joanna, Taylor, Robert W, Downes, Susan M
發表在 Br J Ophthalmol (2017)

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

由 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
發表在 Eur J Hum Genet (2015)

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

由 Sommerville, Ewen W., Jones, Rachel L., Hardy, Steven A., Blakely, Emma L., Pyle, Angela, Schaefer, Andrew M., Chinnery, Patrick F., Turnbull, Douglass M., Gorman, Gráinne S., Taylor, Robert W.
發表在 Neurol Genet (2017)

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

由 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.
發表在 Front Genet (2020)

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant

由 Poole, Olivia V., Horga, Alejandro, Hardy, Steven A., Bugiardini, Enrico, Woodward, Cathy E., Hargreaves, Iain P., Merve, Ashirwad, Quinlivan, Rosaline, Taylor, Robert W., Hanna, Michael G., Pitceathly, Robert D.S.
發表在 Neurol Genet (2020)

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

由 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.
發表在 Neuromuscul Disord (2016)

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

由 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.
發表在 Front Genet (2015)

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

由 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.
發表在 Front Genet (2015)

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

由 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.
發表在 Neurol Genet (2016)

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

由 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.
發表在 Eur Heart J (2016)

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

由 Grady, John P, Pickett, Sarah J, Ng, Yi Shiau, Alston, Charlotte L, Blakely, Emma L, Hardy, Steven A, Feeney, Catherine L, Bright, Alexandra A, Schaefer, Andrew M, Gorman, Gráinne S, McNally, Richard JQ, Taylor, Robert W, Turnbull, Doug M, McFarland, Robert
發表在 EMBO Mol Med (2018)

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

由 Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I. C., Carbo, Miriam, Hardy, Steven A., Falkous, Gavin, He, Langping, Cerbelli, Bruna, Pignataro, Maria Gemma, Zacara, Elisabetta, Re, Federica, Della Monica, Paola Lilla, Morea, Veronica, Bonnen, Penelope E., Taylor, Robert W., d’Amati, Giulia, Giordano, Carla
發表在 Sci Rep (2019)

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

由 Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., Grazina, Manuela
發表在 Neuromuscul Disord (2018)

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

由 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.
發表在 J Inherit Metab Dis (2016)

Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure

由 Pfeffer, Gerald, Barresi, Rita, Wilson, Ian J, Hardy, Steven A, Griffin, Helen, Hudson, Judith, Elliott, Hannah R, Ramesh, Aravind V, Radunovic, Aleksandar, Winer, John, Vaidya, Sujit, Raman, Ashok, Busby, Mark, Farrugia, Maria E, Ming, Alec, Everett, Chris, Emsley, Hedley CA, Horvath, Rita, Straub, Volker, Bushby, Kate, Lochmüller, Hanns, Chinnery, Patrick F, Sarkozy, Anna
發表在 J Neurol Neurosurg Psychiatry (2014)

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

由 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.
發表在 Front Genet (2015)

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

由 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
發表在 J Med Genet (2016)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

由 Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Scialó, Filippo, Formosa, Luke E, Stroud, David A, Garrett, Madeleine, Lax, Nichola Z, Robertson, Fiona M, Jou, Cristina, Nascimento, Andres, Ortez, Carlos, Jimenez‐Mallebrera, Cecilia, Hardy, Steven A, He, Langping, Brown, Garry K, Marttinen, Paula, McFarland, Robert, Sanz, Alberto, Battersby, Brendan J, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
發表在 EMBO Mol Med (2018)