A peroxiredoxin, PRDX-2, is required for insulin secretion and insulin/IIS-dependent regulation of stress resistance and longevity

ανά Oláhová, Monika, Veal, Elizabeth A
Τόπος έκδοσης Aging Cell (2015)

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways

ανά Tang, Jia Xin, Thompson, Kyle, Taylor, Robert W., Oláhová, Monika
Τόπος έκδοσης Int J Mol Sci (2020)

Genome-wide screening identifies new genes required for stress-induced phase 2 detoxification gene expression in animals

ανά Crook-McMahon, Helen M, Oláhová, Monika, Button, Emma L, Winter, Johnathan J, Veal, Elizabeth A
Έκδοση 2014

A redox-sensitive peroxiredoxin that is important for longevity has tissue- and stress-specific roles in stress resistance

ανά Oláhová, Monika, Taylor, Sarah R., Khazaipoul, Siavash, Wang, Jinling, Morgan, Brian A., Matsumoto, Kunihiro, Blackwell, T. Keith, Veal, Elizabeth A.
Έκδοση 2008

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

ανά 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.
Τόπος έκδοσης Sci Rep (2017)

Recent advances in understanding the molecular genetic basis of mitochondrial disease

ανά 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.
Τόπος έκδοσης J Inherit Metab Dis (2019)

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

ανά 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.
Τόπος έκδοσης Neuromuscul Disord (2020)

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

ανά 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
Τόπος έκδοσης Hum Mol Genet (2018)

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

ανά Oláhová, Monika, Berti, Camilla Ceccatelli, Collier, Jack J, Alston, Charlotte L, Jameson, Elisabeth, Jones, Simon A, Edwards, Noel, He, Langping, Chinnery, Patrick F, Horvath, Rita, Goffrini, Paola, Taylor, Robert W, Sayer, John A
Τόπος έκδοσης Hum Mol Genet (2019)

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

ανά Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Τόπος έκδοσης Eur J Hum Genet (2015)

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

ανά Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Τόπος έκδοσης Hum Genet (2015)

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

ανά Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Τόπος έκδοσης EMBO Mol Med (2020)

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

ανά Boczonadi, Veronika, King, Martin S., Smith, Anthony C., Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G., Pyle, Angela, Griffin, Helen, Taylor, Robert W., Chinnery, Patrick F., Robinson, Alan J., Kunji, Edmund R.S., Horvath, Rita
Τόπος έκδοσης Genet Med (2018)

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

ανά 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.
Τόπος έκδοσης J Inherit Metab Dis (2016)

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

ανά Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W
Τόπος έκδοσης Hum Mol Genet (2019)

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

ανά 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
Τόπος έκδοσης J Med Genet (2016)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

ανά 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
Τόπος έκδοσης EMBO Mol Med (2018)

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

ανά 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.
Τόπος έκδοσης Brain (2015)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

ανά Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Τόπος έκδοσης Am J Hum Genet (2016)

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

ανά Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.
Τόπος έκδοσης N Engl J Med (2021)